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Gene: Gpr88 MGI:1927653

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

G-protein coupled receptor 88

Synonyms:

Strg

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gpr88 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.

Human diseases associated with Gpr88 (1 diseases)
Human diseases predicted to be associated with Gpr88 (285 diseases)

The table below shows human diseases associated to Gpr88 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Chorea, Childhood-Onset, With Psychomotor Retardation		Chorea	OMIM:616939

The table below shows human diseases predicted to be associated to Gpr88 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Increased serum...	OMIM:608636
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn...	OMIM:607373
Autism	Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn...	OMIM:209850
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Autism, Susceptibility To, 20	Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder	OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Autism, Susceptibility To, X-Linked 3	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:300425
N-Acetylaspartate Deficiency	Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner...	OMIM:614063
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ...	ORPHA:275864
Pick Disease Of Brain	Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion...	OMIM:172700
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition...	OMIM:600795
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil...	OMIM:612069
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Landau-Kleffner Syndrome	Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I...	ORPHA:98818
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder	OMIM:617113
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ...	OMIM:619150
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Autism, Susceptibility To, X-Linked 2	Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher...	OMIM:300495
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Irritability, Bradykine...	ORPHA:248111
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Cognitive impairment, Bruxism, Difficulty walking, Impaired s...	ORPHA:561854
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior	OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper...	OMIM:301008
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hyperactivity, Ataxia	OMIM:615924
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy	OMIM:605899
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social inter...	OMIM:617820
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn...	OMIM:608049
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete...	ORPHA:2382
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Shy...	ORPHA:449291
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit...	OMIM:610042
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo...	OMIM:619927
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h...	OMIM:615516
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi...	OMIM:617695
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin...	ORPHA:33543
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Increased circulating ACTH level...	ORPHA:43
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Hsd10 Disease	Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior	ORPHA:391417
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral pattern, Abnormalit...	OMIM:604317
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne...	ORPHA:927
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormality of neuro...	ORPHA:163681
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno...	ORPHA:1020
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Multifocal epileptiform discharges, Dysmetria, Dysdia...	ORPHA:228360
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Chorea, Bradykinesia, Attention deficit hyperactivity disorder, Abnormal repetitive manne...	OMIM:619725
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti...	OMIM:619580
Rasmussen Subacute Encephalitis	Hyperactivity, Increased theta frequency activity in EEG, Emotional lability, EEG with focal epil...	ORPHA:1929
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o...	ORPHA:79264
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r...	OMIM:618917
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Ataxia, Progressive psychomotor deterioration, Hyperinsulinemia, Gait ataxia, Cogn...	ORPHA:363400
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ...	OMIM:617044
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement...	ORPHA:168491
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde...	OMIM:618342
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma...	OMIM:617600
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Depression, Dysphagia, Abnormal repetitive mannerisms	DECIPHER:45
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Insulin-Like Growth Factor I Deficiency	Short attention span, Hyperactivity, Elevated circulating growth hormone concentration, Decreased...	OMIM:608747
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis	ORPHA:382
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Abnormal repetitive mannerisms, Difficulty walking, Shyness	ORPHA:280763
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Bruxism, Bradykinesia, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ...	OMIM:614104
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox...	ORPHA:228402
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t...	ORPHA:98794
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Cognitive impairment, D...	ORPHA:98784
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l...	OMIM:607485
Intellectual Developmental Disorder, X-Linked 30	Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Agitation	OMIM:300558
X-Linked Cerebral Adrenoleukodystrophy	Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Ina...	ORPHA:139396
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
48,Xxyy Syndrome	Ataxia, Hypergonadotropic hypogonadism, Depression, Type II diabetes mellitus, Attention deficit ...	ORPHA:10
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Christianson Syndrome	Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms	ORPHA:85278
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Diminished ability to concentrate, Compulsive behaviors, Attention deficit hyperactivity ...	OMIM:615656
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms	OMIM:619317
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor...	ORPHA:500180
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Bradykinesia, D...	OMIM:610217
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai...	ORPHA:35069
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att...	OMIM:300986
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Unsteady gait, Abnormal emotion, Attention deficit hyperactivity disorder,...	ORPHA:1942
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ...	ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Hypothyroidism, Self-injurious behavior, ...	OMIM:600430
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Short attention span, Diabetes mellitus, Repetitive compulsive behavior, Attention deficit hypera...	ORPHA:391372
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Abnormality of the thyroid gland, Self hugging, Head-bang...	OMIM:182290
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Decreased response to growth hormone stimulation test, Depression, Self-in...	OMIM:601853
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia	OMIM:619092
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Depression, Gait disturbance, Abnormal rep...	ORPHA:457240
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Repetitive compulsive behavior, Inability to walk, Chorea, Bruxism, D...	OMIM:300260
Cri-Du-Chat Syndrome	Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive...	OMIM:123450
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
47,Xyy Syndrome	Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Attention deficit hyperacti...	ORPHA:8
Rett Syndrome	Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, Increased serum...	ORPHA:778
Galloway-Mowat Syndrome 6	Hypothyroidism, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased response...	OMIM:618347
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ...	OMIM:617302
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Choreoacanthocytosis	Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o...	ORPHA:2388
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Delayed me...	ORPHA:247585
22Q11.2 Duplication Syndrome	Compulsive behaviors, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of the thymus, Attention...	ORPHA:1727
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Gait imbalance, Attention deficit h...	OMIM:619312
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereot...	OMIM:300912
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Irritability, Athetosis, Impaired social interactions, Bruxism, Abnorma...	OMIM:613454
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder...	OMIM:300352
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Precocious puberty, Self-biting, Hypogonadism, Abnormal repet...	ORPHA:3306
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty, Inability to walk, Abnormal repetitive mannerisms	OMIM:619877
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord...	OMIM:619293
Transketolase Deficiency	Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Type I d...	ORPHA:488618
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Short attention span, Hyperactivity, Hypoparathyroidism, Ataxia, Thyroid hemi...	ORPHA:209905
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia...	OMIM:617061
Developmental And Epileptic Encephalopathy 64	Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:618004
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Hypothyroidism, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitiv...	OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil...	OMIM:300486
Smith-Magenis Syndrome	Impaired pain sensation, Precocious puberty, Hypothyroidism, Self-injurious behavior, Gait distur...	ORPHA:819
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:618430
Proximal 16P11.2 Microdeletion Syndrome	Choreoathetosis, Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit ...	ORPHA:261197
Potocki-Lupski Syndrome	Hypothyroidism, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Progressive neurologic deterioration, Aggressive behavior	OMIM:252920
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia	OMIM:617807
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ...	OMIM:616393
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Inability to walk, Delayed early-childhood social milestone...	ORPHA:300570
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne...	OMIM:619435
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Optic Atrophy-Intellectual Disability Syndrome	Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder	ORPHA:401777
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili...	ORPHA:309271
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Abnormal repetitive mannerisms, Head-banging, Attention deficit hyperac...	OMIM:619103
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,...	ORPHA:476126
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Niemann-Pick Disease, Type C2	Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Cystinosis	Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Gait disturbance, Delayed puberty...	ORPHA:213
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Dementia...	OMIM:234200
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Nmda Receptor Encephalitis	Short attention span, Confusion, Neoplasm of the thymus, Hypersexuality, Chorea, Depression, Chor...	ORPHA:217253
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia	OMIM:619428
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive manner...	OMIM:619229
White-Sutton Syndrome	Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, A...	OMIM:616364
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:457279
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cere...	ORPHA:314647
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Decreased response to growth horm...	ORPHA:319182
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Abnormal repetitive mannerisms	ORPHA:500159
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin...	OMIM:609152
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Impaired pain sensation, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
2Q37 Microdeletion Syndrome	Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:1001
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso...	OMIM:619575
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,...	OMIM:620330
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ...	OMIM:619475
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Impulsivity, Shyness, Attention deficit hyperactivity disorder, Ab...	OMIM:301030
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc...	ORPHA:805
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Impair...	OMIM:619005
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Hereditary Sensory And Autonomic Neuropathy Type 4	Short attention span, Hyperactivity, Nail-biting, Pain insensitivity, Somatic sensory dysfunction...	ORPHA:642
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica...	OMIM:212066
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Abnormal repetitive...	ORPHA:522077
Mucopolysaccharidosis Type 2	Short attention span, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, I...	ORPHA:580
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj...	ORPHA:96121
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Short attention span, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Bainbridge-Ropers Syndrome	Precocious puberty, Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal...	OMIM:615485
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Ataxia, Dysphagia	ORPHA:496641
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Posterior pituitary hypoplasia, Gait disturbance, Abnormal repetitive mannerisms, Attention defic...	ORPHA:464311
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin...	ORPHA:99819
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, ...	OMIM:617330
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Developmental And Epileptic Encephalopathy 100	Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms	OMIM:619777
Monosomy 22Q13.3	Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism	ORPHA:48652
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Diabetes insipidus, Depression, Self-injurious behavior, Abnormal circulatin...	ORPHA:534
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Stereotypical body ro...	ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Anterior pituitary hypoplasia, Gait disturbance	ORPHA:464306
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:508533
Primrose Syndrome	Restlessness, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Aggressive behavior, Hyp...	OMIM:259050
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms	OMIM:301040
Norrie Disease	Diabetes mellitus, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorde...	ORPHA:649
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms, Difficulty walking	OMIM:618653
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Precocious puberty, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Ogden Syndrome	Irritability, Abnormal repetitive mannerisms, Maternal diabetes, Dysphagia	OMIM:300855
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
1P36 Deletion Syndrome	Hypothyroidism, Polyphagia, Self-injurious behavior, Gait disturbance, Hypogonadism, Dysphagia, A...	ORPHA:1606
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Gait imbalance, Dysphagia	OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom...	ORPHA:892
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Coffin-Siris Syndrome 12	Hypothyroidism, Abnormal repetitive mannerisms	OMIM:619325
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Wolf-Hirschhorn Syndrome	Precocious puberty, Abnormal repetitive mannerisms	OMIM:194190
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Impaired social in...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Abnormal repeti...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Abnormal repeti...	ORPHA:261552
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea	OMIM:616939

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 Gpr88

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 Gpr88.

No publications found that use IMPC mice or data for Gpr88.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Gpr88^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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