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Gene: Tcf20 MGI:108399

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Gene Summary

Name:
transcription factor 20
Synonyms:
2810438H08Rik,  SPBP,  stromelysin 1 PDGF responsive element binding protein

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Tcf20em1(IMPC)Wtsi HOM   Early adult 1.76×10-06
increased total body fat amount Tcf20em1(IMPC)Wtsi HOM Early adult 1.97×10-06
increased circulating insulin level Tcf20em1(IMPC)Wtsi HOM Early adult 5.00×10-24
increased circulating aspartate transaminase level Tcf20em1(IMPC)Wtsi HOM Early adult 7.81×10-05
decreased lean body mass Tcf20em1(IMPC)Wtsi HOM Early adult 1.53×10-07
increased circulating alkaline phosphatase level Tcf20em1(IMPC)Wtsi HOM Early adult 2.58×10-07
increased circulating creatine kinase level Tcf20em1(IMPC)Wtsi HOM   Early adult 3.26×10-06
decreased bone mineral content Tcf20em1(IMPC)Wtsi HOM   Early adult 1.62×10-07

Download data as:  TSV  XLS

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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.

Legacy Phenotype Associated Images
Tcf20em1(IMPC)Wtsi
abnormal tail morphology, kinked tail, HOM, Female, WTSI
Tcf20em1(IMPC)Wtsi
head, abnormal snout morphology, asymmetric snout, snout, HOM, Female, WTSI
Tcf20em1(IMPC)Wtsi
head, snout, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI
Tcf20em1(IMPC)Wtsi
head, snout, abnormal snout morphology, HOM, Female, WTSI
Tcf20em1(IMPC)Wtsi
hindlimb, foot, foot digit 1, polydactyly, polysyndactyly, abnormal digit morphology, HOM, Female, WTSI

View all 6 images

Human diseases caused by Tcf20 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 Tcf20 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430

The table below shows human diseases predicted to be associated to Tcf20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior OMIM:617171
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
N-Acetylaspartate Deficiency
Short attention span, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Osteopenia, Increased insulin like growth factor binding protein acid l... OMIM:619489
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions OMIM:617820
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism OMIM:619150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypog... OMIM:616033
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrophy, Adipose ti... ORPHA:528
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619470
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... OMIM:608612
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... OMIM:618718
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Abnormal repetitive mannerisms OMIM:617393
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity OMIM:620195
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... ORPHA:263455
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increa... ORPHA:79237
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Os... OMIM:248370
Foxg1 Syndrome
Impaired social interactions, Bruxism, Cognitive impairment, Abnormal repetitive mannerisms, Paro... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Progressive language deterioration, Impaired social interacti... OMIM:610042
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... OMIM:615516
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Estrogen Resistance
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Estrogen Resistance Syndrome
Osteopenia, Increased circulating gonadotropin level, Absence of secondary sex characteristics, H... ORPHA:785
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Emotio... ORPHA:79264
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati... OMIM:613327
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D... ORPHA:98784
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive mannerisms, D... ORPHA:927
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Shyness ORPHA:280763
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618342
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Xq28 (MECP2) duplication
Depression, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... OMIM:269700
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... OMIM:617695
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyc... OMIM:608594
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyper... OMIM:619580
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, Motor deterioration, Dementia, Low frustration tolerance, Men... ORPHA:168491
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Christianson Syndrome
Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia ORPHA:85278
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Depression ORPHA:457240
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Chromosome 15Q11.2 Deletion Syndrome
Diminished ability to concentrate, Attention deficit hyperactivity disorder, Impaired social inte... OMIM:615656
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... ORPHA:79474
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms OMIM:619317
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Bruxism, Depression, Hostility, Dysphagia, Abnormal repetitive ma... OMIM:300260
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mu... OMIM:123450
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rick... ORPHA:2126
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so... OMIM:300912
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms OMIM:619092
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms OMIM:613443
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ... ORPHA:3464
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression ORPHA:10
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Prader-Willi Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:176270
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619877
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... OMIM:619293
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Rett Syndrome, Congenital Variant
Tongue thrusting, Irritability, Impaired social interactions, Bruxism, Abnormal repetitive manner... OMIM:613454
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:618430
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619121
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... OMIM:300352
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Abnormal repetitive mannerisms OMIM:617807
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r... OMIM:619312
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... ORPHA:261197
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Ritscher-Schinzel Syndrome 4
Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior OMIM:619435
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:616393
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619428
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Delayed early-childhood social milestone development, Impaired social inter... ORPHA:300570
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, Abnormal repetit... OMIM:616364
Rett Syndrome
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Smith-Magenis Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:819
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... ORPHA:319182
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Abnormal temper tantrums, Aggressive b... ORPHA:457279
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Impaired social interactions, Bruxism, Abnormal repetitive... OMIM:606232
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Nmda Receptor Encephalitis
Short attention span, Confusion, Hypersexuality, Depression, Agitation, Memory impairment, Mania,... ORPHA:217253
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso... OMIM:619575
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Niemann-Pick Disease, Type C2
Dementia, Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Joubert Syndrome 6
Abnormal repetitive mannerisms OMIM:610688
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical hand wr... OMIM:619229
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99413
Turner Syndrome
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:881
Mosaic Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99228
Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... ORPHA:99226
Congenital Disorder Of Glycosylation, Type Iia
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior OMIM:212066
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness OMIM:301030
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Short attention span, Impulsivity, Aggressive behavior, Repe... OMIM:619475
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Liver Disease, Severe Congenital
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... OMIM:619991
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... ORPHA:468678
Tenorio Syndrome
Osteopenia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms ORPHA:2479
Kleefstra Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior ORPHA:261494
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Bainbridge-Ropers Syndrome
Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:615485
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... ORPHA:580
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Impaired ... ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated c... ORPHA:79318
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Compulsive behaviors, Dysph... OMIM:615873
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:610954
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... OMIM:619512
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Kinsship Syndrome
Abnormal repetitive mannerisms, Bruxism OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:464311
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:508533
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, Dysphagia OMIM:619777
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
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... ORPHA:534
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Abnormal repetitive mannerisms ORPHA:464306
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms OMIM:618653
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms ORPHA:513456
Hypotonia, Ataxia, And Delayed Development Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:617330
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Ogden Syndrome
Irritability, Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:614756
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Norrie Disease
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:649
1P36 Deletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia ORPHA:1606
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Hyperinsulinemic hypoglycemia ORPHA:2968
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Primrose Syndrome
Restlessness, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyperactivity... OMIM:259050
Coffin-Siris Syndrome 12
Abnormal repetitive mannerisms OMIM:619325
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms OMIM:194190
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Mowat-Wilson Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Dysphagia, Bruxism ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal repetitive mannerisms, Dysphagia, Bruxism ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal repetitive mannerisms, Dysphagia, Bruxism 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 Tcf20

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 Tcf20.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proceedings of the National Academy of Sciences of the United States of America (January 2022) Tcf20em1(IMPC)Wtsi 35074918
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Tcf20em1(IMPC)Wtsi Tcf20em2(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Tcf20em1(IMPC)Wtsi PMC6671969

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MGI Allele Allele Type Produced
Tcf20em2(IMPC)Wtsi Exon Deletion Mice
Tcf20em1(IMPC)Wtsi Deletion Mice

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