Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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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

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
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Hyperactivity 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, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Reduced social reciprocity OMIM:606053
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Childhood Disintegrative Disorder
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... ORPHA:168782
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation OMIM:617171
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... ORPHA:275864
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Reduced subcutaneous adipose tissue, Loss of gluteal subc... ORPHA:280356
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy OMIM:612069
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:601820
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
N-Acetylaspartate Deficiency
Short attention span, Motor stereotypy, Self-mutilation OMIM:614063
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276580
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... ORPHA:276575
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... OMIM:619489
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Frontotemporal dem... OMIM:600795
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Reduced social reciprocity OMIM:617820
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity, Hyperinsulinemia OMIM:618406
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Osteopo... OMIM:616033
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Hypertrigl... OMIM:617885
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... ORPHA:276556
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Bone cyst... ORPHA:528
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Silver-Russell Syndrome Due To 11P15 Microduplication
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute... ORPHA:231144
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia OMIM:620195
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Irritability OMIM:617393
Foxg1 Syndrome
Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Motor stereotypy, Cognitive imp... ORPHA:561854
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Hypoketotic hy... ORPHA:263455
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Incre... ORPHA:79237
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increa... OMIM:248370
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Estrogen Resistance
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... OMIM:615363
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Emotional lability, Dysphagia, Cognitive impairment, Motor deterioration, Dementia, P... ORPHA:79264
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... ORPHA:71212
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment ORPHA:98784
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Elevated circulating creatin... OMIM:613327
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Stereotypical hand wringing OMIM:618917
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Perlman Syndrome
Hyperinsulinemia, Femoral hernia, Inguinal hernia ORPHA:2849
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Confusion, Emotional lability, Cognitive impairment, Delirium, Motor stereotypy, Agitation ORPHA:927
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Excessive shyness ORPHA:280763
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Lopes-Maciel-Rodan Syndrome
Motor stereotypy, Bruxism, Dysphagia, Agitation OMIM:617435
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, Hyp... OMIM:618342
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620292
Autism Spectrum Disorder Due To Auts2 Deficiency
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... ORPHA:352490
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Xq28 (MECP2) duplication
Motor stereotypy, Depression, Dysphagia DECIPHER:45
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Motor stereotypy, Hyperactivity, Stereotypical hand wringing OMIM:614104
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia OMIM:617695
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Abnormal social behavior ORPHA:530983
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissu... OMIM:269700
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:177735
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Reduced subcutaneous adipose tissue, ... OMIM:608594
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxy... ORPHA:556037
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Recurrent hand flapping, Emotional lability, Short attention span, Aggressive behavior, Attention... OMIM:619580
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Obsessive-compulsive trait, Low frustration tolerance, Aggressive behavior,... ORPHA:168491
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Christianson Syndrome
Inappropriate laughter, Motor stereotypy, Dysphagia ORPHA:85278
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me... ORPHA:769
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxy... ORPHA:556030
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hyperact... OMIM:600430
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased... OMIM:203400
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Motor stereotypy, Self-mutilation ORPHA:457240
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy OMIM:619725
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617808
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Prader-Willi Syndrome
Precocious puberty, Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, Failu... OMIM:176270
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Smith-Magenis Syndrome
Head-banging, Onychotillomania, Self-mutilation, Hyperactivity, Self hugging, Motor stereotypy OMIM:182290
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... OMIM:615656
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting ORPHA:3306
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy OMIM:619317
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... OMIM:601198
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperglycemia, Hyperinsulinemia, Gen... ORPHA:79474
Cri-Du-Chat Syndrome
Oppositional defiant disorder, Short attention span, Self-mutilation, Overfriendliness, Aggressiv... OMIM:123450
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced social reciprocity... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Hostility, Bruxism, Repetitive compulsive behavior, Dysphagia, Motor stereotypy OMIM:300260
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy OMIM:619092
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Depression, Motor stereotypy ORPHA:10
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Motor stereotypy OMIM:613443
Potocki-Lupski Syndrome
Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Rett Syndrome, Congenital Variant
Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, Motor stereotypy OMIM:613454
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Motor stereotypy OMIM:617796
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy OMIM:619877
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy ORPHA:411986
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy OMIM:616351
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Decreased response to... ORPHA:3464
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:397612
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... OMIM:619293
Rett Syndrome
Bruxism, Stereotypical hand wringing, Progressive language deterioration, Motor stereotypy, Agita... ORPHA:778
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Low frustration tolerance, Motor stereotypy, Hyperactivity, Self-mutilation OMIM:300486
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:618430
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Motor stereotypy OMIM:618004
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1727
4Q21 Microdeletion Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:238750
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia... OMIM:617061
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s... OMIM:214700
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:619121
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social r... OMIM:300352
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Frequent temper tantrums, Head-banging, Motor stereotypy OMIM:619103
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Compulsive behaviors OMIM:613174
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Overfriendliness OMIM:616579
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Reduced social reciprocity ORPHA:261197
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy OMIM:617807
Radio-Tartaglia Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy, Impul... OMIM:619312
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Dysphagia OMIM:617802
Ritscher-Schinzel Syndrome 4
Aggressive behavior, Motor stereotypy, Dysphagia, Impulsivity OMIM:619435
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy OMIM:619428
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy OMIM:616393
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Short attention span, Emotional lability, Reduced social reciprocity, Motor stereotypy, Delayed e... ORPHA:300570
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Tics... OMIM:616364
Smith-Magenis Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:819
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Motor stereotypy, Aggressive behavior, Low frustration tolerance ORPHA:457279
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavi... ORPHA:476126
Wiedemann-Steiner Syndrome
Short attention span, Low frustration tolerance, Aggressive behavior, Dysphagia, Hyperactivity, P... ORPHA:319182
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Phelan-Mcdermid Syndrome
Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusting, Motor stereotypy OMIM:606232
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Motor stereotypy OMIM:615802
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Frequent temper tantrums, Short attention span, Attention ... OMIM:619575
Nmda Receptor Encephalitis
Depression, Memory impairment, Confusion, Short attention span, Motor stereotypy, Delirium, Mania... ORPHA:217253
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:1001
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:435638
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:620494
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Niemann-Pick Disease, Type C2
Dementia, Motor stereotypy, Dysphagia OMIM:607625
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Joubert Syndrome 6
Motor stereotypy OMIM:610688
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy OMIM:610253
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Reduced social reciprocity, Skin-picking, Attention defic... ORPHA:177907
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obesity, Hyperinsulinemia, T... ORPHA:99413
Turner Syndrome
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obesity, Hyperinsulinemia, T... ORPHA:881
Mosaic Monosomy X
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obesity, Hyperinsulinemia, T... ORPHA:99228
Monosomy X
Osteopenia, Atypical scarring of skin, Failure to thrive in infancy, Obesity, Hyperinsulinemia, T... ORPHA:99226
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Stereotypical hand wringing, Dysphagia, Motor stereotypy, Agitation OMIM:619229
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing OMIM:212066
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy ORPHA:468678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Depression, Violent behavior, Bruxism, Short attention span, Emotional labi... OMIM:619475
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Excessive shyness, Impulsivity OMIM:301030
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy ORPHA:457351
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation ORPHA:261494
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Umbilical hernia, Hyperbilirubin... OMIM:619991
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy ORPHA:2479
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Mental deterioration, Oppositional defiant disorder, Short attention sp... ORPHA:580
Developmental And Epileptic Encephalopathy 2
Motor stereotypy OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation OMIM:619005
Bainbridge-Ropers Syndrome
Self-injurious behavior, Motor stereotypy, Recurrent hand flapping OMIM:615485
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Reduced social reciprocity, Aggressive behavior, Polyphagia, Hyperactivi... ORPHA:96121
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Dysphagia ORPHA:496641
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting ORPHA:522077
Helsmoortel-Van Der Aa Syndrome
Bruxism, Reduced social reciprocity, Irritability, Polyphagia, Attention deficit hyperactivity di... OMIM:615873
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353281
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Osteopenia, Failure to thrive, Increased circulating prolact... ORPHA:79318
Pitt-Hopkins Syndrome
Self-injurious behavior, Motor stereotypy OMIM:610954
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Polyphagia, Attenti... OMIM:620330
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Motor stereotypy, Short attention span OMIM:301066
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Frequent temper tantrums, Hyperactivity, Compulsive behaviors, Motor ste... OMIM:619512
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Motor stereotypy OMIM:301040
Kinsship Syndrome
Bruxism, Motor stereotypy OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:464311
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy ORPHA:508533
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Dysphagia OMIM:619777
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Reduced social recip... ORPHA:353277
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Motor stereotypy ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Hyperactivity ORPHA:464306
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Attention deficit hyperactivity disorder, Compulsive behavio... ORPHA:534
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy ORPHA:513456
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Dysphagia OMIM:617330
Ogden Syndrome
Motor stereotypy, Dysphagia, Irritability OMIM:300855
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:614756
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity OMIM:309590
Arboleda-Tham Syndrome
Motor stereotypy, Dysphagia OMIM:616268
Norrie Disease
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Irritability ORPHA:649
1P36 Deletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Dysphagia ORPHA:1606
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy OMIM:301044
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Hyperinsulinemic hypoglycemia ORPHA:2968
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Motor stereotypy OMIM:612474
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia OMIM:619522
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Tics, Res... OMIM:259050
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Wolf-Hirschhorn Syndrome
Motor stereotypy OMIM:194190
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Mowat-Wilson Syndrome
Bruxism, Motor stereotypy, Dysphagia, Reduced social reciprocity ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bruxism, Motor stereotypy, Dysphagia ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bruxism, Motor stereotypy, Dysphagia 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)