Gene Summary

Name:
protocadherin 20
Synonyms:
PCDH13,  C630015B17Rik

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
decreased thigmotaxis Pcdh20em1(IMPC)H HOM Late adult 1.09×10-05
hyperactivity Pcdh20em1(IMPC)H HOM Late adult 4.44×10-05
hypoactivity Pcdh20em1(IMPC)H HOM Late adult 5.29×10-05
abnormal behavior Pcdh20em1(IMPC)H HOM Late adult 1.09×10-05
decreased cardiac output Pcdh20em1(IMPC)H HOM   Late adult 2.48×10-05
decreased anxiety-related response Pcdh20em1(IMPC)H HOM Late adult 3.76×10-05
head bobbing Pcdh20em1(IMPC)H HOM Early adult 7.65×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Echo

M-Mode Images

52 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Pcdh20 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 Pcdh20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
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
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Immunodeficiency 8
Hyperactivity OMIM:615401
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression OMIM:159900
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Hyperactivity, Attention deficit hyperactivity disorder, Sick sinus syndrome, Arrhyt... OMIM:617182
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:619639
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Distal 7Q11.23 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Bipolar affective disorder ORPHA:254351
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
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
Chorea, Benign Familial
Chorea OMIM:215450
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spa... ORPHA:251282
Huntington Disease-Like 2
Dystonia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Apathy, Bradykinesia, Shuffling gait, Falls, Short stepped shuffling gait... ORPHA:412066
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Emotional lability, Anxiety, Gait ataxia, Depre... ORPHA:71517
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Attention deficit hyperactivity disorde... OMIM:605361
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Anxiety, Depression, Bradykinesia OMIM:605909
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Incoordination, Frequent falls ORPHA:79136
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Stereotypy OMIM:618709
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Anxiety, Congestive heart failure, Dilated cardiomyopathy OMIM:606703
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia OMIM:619150
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Ataxia, Attention deficit hyperactivity disorder, Emotional lability OMIM:614306
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Stereotypy OMIM:617393
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Huntington Disease-Like 3
Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, Extrapyramidal dys... ORPHA:157946
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements OMIM:618218
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Jerky head movements, Frequent falls, Dysmetria, Chorea, Abnor... ORPHA:157941
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Jerky head movements, Choreoathetosis OMIM:245348
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Congestive heart failure OMIM:275000
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, ... ORPHA:247815
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Parkinson Disease 7, Autosomal Recessive Early-Onset
Anxiety, Leg dystonia, Blepharospasm, Bradykinesia OMIM:606324
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing OMIM:618760
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Stereotypy OMIM:612069
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia OMIM:618917
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Myoclonus, Rigidity, Stereotypy OMIM:600795
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Tongue thrusting, Tremor, Stereotypical hand wringing, Apr... ORPHA:3095
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Hyperkinetic movements OMIM:619317
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Stereotypy OMIM:613670
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Spastic dysarthria, Stereotypy, Spasticity, Progressive spastic paraplegia ORPHA:280763
Foxg1 Syndrome
Choreoathetosis, Myoclonus, Stereotypy, Stereotypical hand wringing, Hyperkinetic movements, Spas... ORPHA:561854
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... ORPHA:1929
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety,... ORPHA:449291
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior, Arrhythmia OMIM:600430
Behavioral Variant Of Frontotemporal Dementia
Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Fasciculations, Ste... ORPHA:275864
Pick Disease Of Brain
Stereotypy OMIM:172700
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Stereotypy, Ataxia, Spasticity, Limb ataxia OMIM:617695
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity ORPHA:352490
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy OMIM:618906
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior OMIM:616809
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsi... OMIM:610217
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait ORPHA:35069
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy OMIM:252920
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Depression, Bipolar affective disorder OMIM:601853
16P12.1P12.3 Triplication Syndrome
Skin-picking, Tachycardia, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail... ORPHA:485405
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Jeavons Syndrome
Abnormal head movements, Limb myoclonus ORPHA:139431
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... ORPHA:168491
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Snijders Blok-Campeau Syndrome
Speech apraxia, Stereotypy OMIM:618205
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy OMIM:617044
Fragile X Syndrome
Abnormal head movements OMIM:300624
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Poor fine motor coordination, ... ORPHA:79264
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity ORPHA:208447
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation, Postural hypotension with compensatory tachyc... OMIM:256800
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Stereotypy ORPHA:457240
Christianson Syndrome
Gait ataxia, Truncal ataxia, Stereotypy ORPHA:85278
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Stereotypy DECIPHER:45
Pediatric-Onset Graves Disease
Mood swings, Hypertension, Atrial fibrillation, Palpitations, Hyperactivity, Irritability, Conges... ORPHA:525731
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance ORPHA:163681
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging OMIM:182290
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Pulmonic stenosis OMIM:619239
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait ORPHA:98794
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:609625
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability, Pulmonary arterial hypertension ORPHA:447980
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia OMIM:609152
Mend Syndrome
Hyperactivity, Aortic valve stenosis OMIM:300960
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter ORPHA:363686
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Chorea, Spasticity, Stereotypy ORPHA:178469
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy, Ataxia, Recurrent h... OMIM:619580
Shukla-Vernon Syndrome
Stereotypy OMIM:301029
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Stereotypy ORPHA:411986
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
4Q21 Microdeletion Syndrome
Tremor, Stereotypy ORPHA:238750
Lamb-Shaffer Syndrome
Ataxia, Upper motor neuron dysfunction, Stereotypy ORPHA:530983
Childhood Absence Epilepsy
Jerky head movements, Punding, Limb myoclonus ORPHA:64280
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Coffin-Siris Syndrome 6
Tics, Stereotypy OMIM:617808
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Spasticity, Stereotypy OMIM:617807
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait OMIM:105830
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Spastic tetraplegia, Stereotypy, Truncal at... OMIM:619121
19P13.12 Microdeletion Syndrome
Mitral regurgitation, Self-injurious behavior, Aortic regurgitation, Hyperactivity, Arrhythmia ORPHA:254346
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Asymmetric septal hypertrophy OMIM:252900
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Hyperactivi... ORPHA:72
48,Xxyy Syndrome
Tremor, Ataxia, Stereotypy ORPHA:10
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Stereotypy, Repetitive compulsiv... OMIM:300260
Sandifer Syndrome
Torticollis, Abnormal head movements ORPHA:71272
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Stereotypy ORPHA:927
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Aggressive behavior, Shuffling gait, Low frustration tolerance OMIM:300534
Ogden Syndrome
Torticollis, Hypertonia, Abnormal head movements ORPHA:276432
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy OMIM:618825
Rett Syndrome
Limb apraxia, Stereotypical hand wringing, Bradykinesia, Stereotypy ORPHA:778
Choreoacanthocytosis
Dilated cardiomyopathy, Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, An... ORPHA:2388
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Ataxia, Stereotypy OMIM:619428
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Recurrent hand flapping, Hypertonia, Stereotypy OMIM:300986
Rett Syndrome, Congenital Variant
Athetosis, Chorea, Tongue thrusting, Stereotypy, Apraxia, Spasticity OMIM:613454
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Irritability, Lethargy ORPHA:247585
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Hypertonia, Stereotypy OMIM:618914
Histidinemia
Hyperactivity ORPHA:2157
Developmental And Speech Delay Due To Sox5 Deficiency
Stereotypy ORPHA:313892
Macrocephaly-Developmental Delay Syndrome
Stereotypy ORPHA:397612
Intellectual Developmental Disorder, Autosomal Dominant 34
Stereotypy OMIM:616351
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
Potocki-Lupski Syndrome
Stereotypy OMIM:610883
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Asymmetric septal hypertrophy OMIM:252930
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Blepharospasm, Hyperactivity, Ataxia, Akinesia, Depression OMIM:234200
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Stereotypy ORPHA:98784
Radio-Tartaglia Syndrome
Tremor, Ataxia, Stereotypy OMIM:619312
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Stereotypica... OMIM:619229
Blepharophimosis-Impaired Intellectual Development Syndrome
Stereotypy OMIM:619293
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Choreoathetosis, Chorea, Stereotypy, Repetitive compulsive behavior, Ataxia, Hyperkinetic movemen... ORPHA:522077
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy ORPHA:500159
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Mucopolysaccharidosis, Type Iiid
Hyperactivity, Asymmetric septal hypertrophy OMIM:252940
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spasticity ORPHA:496641
Tuberous Sclerosis Complex
Hypertension, Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, ... ORPHA:805
Proximal 16P11.2 Microdeletion Syndrome
Paroxysmal dyskinesia, Choreoathetosis, Speech apraxia, Stereotypy ORPHA:261197
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomotor apraxia, Spastic diplegi... ORPHA:300570
Niemann-Pick Disease, Type C2
Stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Ataxia, Stereotypy OMIM:619435
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Cystinosis
Abnormal pyramidal sign, Stereotypy ORPHA:213
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Arrhythmia, Tricuspid regurgitation ORPHA:261211
Koolen-De Vries Syndrome
Conspicuously happy disposition, Pulmonic stenosis, Hyperactivity, Impulsivity, Anxiety OMIM:610443
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Inappropriate crying, Hyperactivity ORPHA:261323
Joubert Syndrome 1
Hyperactivity, Aggressive behavior, Self-mutilation, Ataxia OMIM:213300
3P25.3 Microdeletion Syndrome
Ataxia, Stereotypy ORPHA:435638
Legius Syndrome
Dystonia, Paroxysmal atrial tachycardia, Pulmonic stenosis, Hyperactivity, Attention deficit hype... ORPHA:137605
Cerebral Creatine Deficiency Syndrome 1
Poor hand-eye coordination, Spasticity, Stereotypy OMIM:300352
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Aggressive behavior, Hyperactivity, Unsteady gait, Anxiety, A... ORPHA:96121
Helsmoortel-Van Der Aa Syndrome
Stereotypy OMIM:615873
Megalocornea-Intellectual Disability Syndrome
Ataxia, Stereotypy ORPHA:2479
22Q11.2 Duplication Syndrome
Stereotypy ORPHA:1727
Wiedemann-Steiner Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Low frustration tolerance ORPHA:319182
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Hypertonia, Spasticity, Stereotypy OMIM:615802
Smith-Magenis Syndrome
Stereotypy ORPHA:819
Mucopolysaccharidosis Type 3
Gait disturbance, Reduced ejection fraction, Loss of ambulation, Atrioventricular block, Aggressi... ORPHA:581
Brain-Lung-Thyroid Syndrome
Dystonia, Pulmonary arterial hypertension, Falls, Hyperactivity, Ataxia ORPHA:209905
Developmental And Epileptic Encephalopathy 2
Myoclonus, Stereotypy OMIM:300672
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Torticollis, Suicidal ideation, Aggressive behavior, Aortic regurgita... OMIM:619475
Phelan-Mcdermid Syndrome
Tongue thrusting, Stereotypy OMIM:606232
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Stereotypy ORPHA:476126
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Spasticity, Stereotypy ORPHA:457351
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Stereotypy OMIM:619103
Hereditary Sensory And Autonomic Neuropathy Type 4
Syncope, Orthostatic hypotension due to autonomic dysfunction, Self-mutilation, Hyperactivity, Im... ORPHA:642
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Stereotypy ORPHA:457279
Bainbridge-Ropers Syndrome
Recurrent hand flapping, Hypertonia, Stereotypy OMIM:615485
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Aortic regurgitation, Hyperactivity, Anxiety, Aortic valve stenosis ORPHA:464306
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Congenital Disorder Of Glycosylation, Type Iia
Hypertonia, Stereotypy OMIM:212066
2Q37 Microdeletion Syndrome
Stereotypy ORPHA:1001
Kleefstra Syndrome 1
Stereotypy OMIM:610253
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Cardiac conduction abnormality, Agoraphobia, Self-injurio... ORPHA:353281
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Transketolase Deficiency
Stereotypy ORPHA:488618
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Aortic regurgitation, Pulmonic stenosis, Hyperactivity, Attention de... OMIM:607721
Mend Syndrome
Hyperactivity, Aggressive behavior, Aortic valve stenosis ORPHA:401973
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Stereotypy ORPHA:217253
Mucopolysaccharidosis Type 2
Hypertension, Aggressive behavior, Cardiomyopathy, Hyperactivity, Impulsivity, Arrhythmia ORPHA:580
Ogden Syndrome
Hypertonia, Stereotypy OMIM:300855
White-Sutton Syndrome
Incoordination, Stereotypy ORPHA:468678
Kleefstra Syndrome
Stereotypy ORPHA:261494
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypertonia, Opisthotonus, Stereotypy ORPHA:508533
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Dystonia, Hyperactivity, Episodic ataxia ORPHA:1934
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Hyperactivity, Transient ischemic attack OMIM:600268
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyramidal sign ORPHA:468631
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia OMIM:617330
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements ORPHA:369837
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Cardiac conduction abnormality, Agoraphobia, Self-injurio... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Cardiac conduction abnormality, Agoraphobia, Self-injurio... ORPHA:353277
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Gait ataxia, Stereotypy ORPHA:513456
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Stereotypy OMIM:619005
Prader-Willi Syndrome Due To Translocation
Stereotypy ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Stereotypy OMIM:301066
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Stereotypy ORPHA:464311
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Stereotypy OMIM:619512
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Stereotypy OMIM:619575
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Arboleda-Tham Syndrome
Lower limb hypertonia, Stereotypy OMIM:616268
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Stereotypy OMIM:618653
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Stereotypy OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Stereotypy OMIM:309590
Oculocerebrorenal Syndrome Of Lowe
Clonus, Stereotypy ORPHA:534
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Stereotypy OMIM:301044
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Stereotypy ORPHA:1606
Coffin-Siris Syndrome 12
Stereotypy OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Stereotypy OMIM:619522
Rubinstein-Taybi Syndrome 1
Poor coordination, Stereotypy OMIM:180849
Wolf-Hirschhorn Syndrome
Stereotypy OMIM:194190
Lowe Oculocerebrorenal Syndrome
Stereotypy OMIM:309000
Norrie Disease
Clonus, Hypertonia, Stereotypy ORPHA:649
Primrose Syndrome
Tics, Stereotypy OMIM:259050
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Poor fine motor coordination, Spasticity, Stereotypy ORPHA:261537
Mowat-Wilson Syndrome
Ataxia, Spasticity, Stereotypy ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Poor fine motor coordination, Spasticity, Stereotypy ORPHA:261552

Histopathology

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

There is no histopathology data for Pcdh20

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 Pcdh20.

No publications found that use IMPC mice or data for Pcdh20.

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MGI Allele Allele Type Produced
Pcdh20em1(IMPC)H Indel Mice
Pcdh20tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pcdh20tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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