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 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 aspartate transaminase level Tcf20em1(IMPC)Wtsi HOM Early adult 7.81×10-05
increased circulating insulin level Tcf20em1(IMPC)Wtsi HOM Early adult 5.00×10-24
decreased lean body mass Tcf20em1(IMPC)Wtsi HOM Early adult 1.53×10-07
decreased bone mineral content Tcf20em1(IMPC)Wtsi HOM   Early adult 1.62×10-07
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

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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
Ataxia, Poor coordination, Anxiety, Aggressive behavior, Spasticity OMIM:618430
Non-Specific Syndromic Intellectual Disability
Speech apraxia, Panic attack ORPHA:528084

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Pick Disease Of Brain
Motor stereotypy, Apathy, Frontotemporal dementia, Emotional blunting, Disinhibition, Inappropria... OMIM:172700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... ORPHA:401901
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... OMIM:615483
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Abno... ORPHA:168782
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Mental deterioration, Abnormality of ex... ORPHA:275864
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions OMIM:606053
Creutzfeldt-Jakob Disease
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... OMIM:123400
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability, Frontotem... OMIM:612069
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Basal Ganglia Calcification, Idiopathic, 6
Cognitive impairment, Depression, Parkinsonism, Memory impairment, Choreoathetosis, Involuntary m... OMIM:616413
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Memory impa... OMIM:600795
Smith-Magenis syndrome
Motor stereotypy, Self-mutilation DECIPHER:8
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Irritability, Dementia OMIM:606438
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... ORPHA:36899
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Incoordination, Dementia OMIM:603218
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor OMIM:159900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dementia OMIM:605909
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea ORPHA:494541
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Chorea, Benign Hereditary
Anxiety, Chorea OMIM:118700
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... ORPHA:324575
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Self-mutilation OMIM:614063
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Motor det... ORPHA:412066
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Self-injurious behavior, Poor eye contact, Involuntary movements, Spasticity, I... OMIM:617820
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Myoclonus, Anxiety OMIM:619191
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... OMIM:604326
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Aggressive behavior, Inappropriate laughter,... OMIM:619150
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Aggressive b... OMIM:309548
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior ORPHA:100973
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300495
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... ORPHA:66624
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... OMIM:601820
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity, Irritability OMIM:617393
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Inc... ORPHA:276575
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... OMIM:604367
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density, Increased insulin like growth... OMIM:619489
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:233810
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Emotional lability OMIM:128235
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Babinski sign, Parkinsonism, Chorea... OMIM:618093
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Aggressive behavior OMIM:239500
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... ORPHA:293964
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Increased bone mineral density OMIM:618406
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Stereotypical hand wringing, Chorea OMIM:618760
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide l... ORPHA:276556
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Hypersexuality, Disi... OMIM:607485
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior OMIM:613670
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Poor eye contact OMIM:613886
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Progressive Non-Fluent Aphasia
Depression, Mental deterioration, Abnormality of extrapyramidal motor function, Anxiety, Parkinso... ORPHA:100070
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Osteoporosis, Delayed puberty, Delayed thelarche, Dorsocervical fa... OMIM:616033
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Irritability ORPHA:500545
Foxg1 Syndrome
Motor stereotypy, Poor eye contact, Cognitive impairment, Inappropriate crying, Myoclonus, Hyperk... ORPHA:561854
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperkinetic movements, Choreoathetosis, Invol... OMIM:618218
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Atypical Rett Syndrome
Poor eye contact, Inappropriate crying, Hand apraxia, Pill-rolling tremor, Panic attack, Stereoty... ORPHA:3095
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Posterior Cortical Atrophy
Ataxia, Anxiety, Memory impairment, Speech apraxia, Limb apraxia, Oculomotor apraxia, Inertia ORPHA:54247
Mody
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Abnormal C-pept... ORPHA:552
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Increased C-peptid... ORPHA:528
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia OMIM:617830
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability OMIM:619717
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Cognitive impairment, Depression, Spastic paraparesis, Dysdiadoc... OMIM:615157
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Progressive language deterioration, C... ORPHA:79264
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Estrogen Resistance
Glucose intolerance, Osteopenia, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Self-injurious behavior, Stereotypical hand wringing, Chorea, Gait ataxia, Spas... OMIM:618917
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Anxiety, Spastic ataxia OMIM:618906
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior OMIM:619690
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Progressive language deterioration, Spasticity, Aggressive behavior, Im... OMIM:610042
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:151660
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Self-injurious behavior, Tremor, Spasticity, Paroxysmal bursts of laughter OMIM:618718
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... ORPHA:363400
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Cognitive impairment, Depression, Anxiety, Suicidal ideation, Involuntary movem... ORPHA:98784
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... ORPHA:263455
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Happy demeanor, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Spast... OMIM:617695
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, Depression, Chorea, Spasticity ORPHA:88616
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal OMIM:615032
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity ORPHA:791
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... OMIM:262190
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Choreoacanthocytosis
Progressive choreoathetosis, Anxiety, Parkinsonism, Disinhibition, Self-mutilation of tongue and ... OMIM:200150
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Depression,... OMIM:300623
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Aggressive behavior OMIM:615541
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Hy... OMIM:248370
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Semantic dementia, Abnormal social behavior, Myoclonus, Parkinsonism, Memory ... ORPHA:1020
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Resting tremor, Parkinsonism, Tremor, Aggressive behavior... ORPHA:3077
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... ORPHA:79237
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Depression, Myoclonus, Anxiety OMIM:616398
Cdkl5-Deficiency Disorder
Inappropriate laughter, Poor eye contact, Stereotypical hand wringing ORPHA:505652
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... ORPHA:280763
Perry Syndrome
Apathy, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Tremor... OMIM:168605
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping, Spasticity OMIM:618859
Xq28 (MECP2) duplication
Motor stereotypy, Depression, Anxiety, Progressive spasticity, Gait ataxia DECIPHER:45
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Tremor, Upper lim... ORPHA:457240
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Cerebral palsy, Anxiety, Myoclonus, Chorea OMIM:617600
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Estrogen Resistance Syndrome
Glucose intolerance, Delayed epiphyseal ossification, Hyperinsulinemia, Absence of pubertal devel... ORPHA:785
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Unicameral... ORPHA:79086
Mpi-Cdg
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Depression,... ORPHA:449291
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Impulsivity, Recurrent hand flapping, Opisthotonus, Lim... OMIM:619580
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Osteopenia, Elevated circulating creati... OMIM:613327
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Aggressive behavior, Self-mutilation OMIM:615516
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia ORPHA:2849
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Self-injurious behavior OMIM:617044
Young-Onset Parkinson Disease
Apathy, Impulsivity, Bradykinesia, Cognitive impairment, Depression, Anxiety, Panic attack, Rigid... ORPHA:2828
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Cortical myoclonus, Mental deterioration, Myoclonus, Anxiety, Low frust... ORPHA:168491
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Punding ORPHA:64280
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional lability ORPHA:927
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor eye contact, Progressive language deterioration, Self-mutilation, Mental deteriorati... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Stereotypical hand wringing, Incoordination, Inappropri... OMIM:614104
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Truncal ataxia, Gait ataxia, Inappropriate lau... ORPHA:85278
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... OMIM:246200
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis OMIM:619317
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... OMIM:203800
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Anxiety, Self-injurious behavior, Aggressive behavior ORPHA:313892
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Gait ataxia, Spasticity OMIM:617807
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior ORPHA:397612
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Impaired social interactions ORPHA:544254
Fragile X Syndrome
Poor eye contact, Recurrent hand flapping, Self-biting OMIM:300624
Rett Syndrome, Congenital Variant
Motor stereotypy, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Tongue thrusting, Sp... OMIM:613454
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Cys... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Poor eye contact, Depression, Anxiety, Rigidity, Chorea, Hostility, Pro... OMIM:300260
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior ORPHA:352490
Alazami Syndrome
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation ORPHA:319671
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 51
Hand-leading gestures, Tics, Aggressive behavior, Recurrent hand flapping OMIM:617788
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Increased serum testosterone level, Reduced subcutaneous adipose tiss... ORPHA:769
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Conspicuously happy disposition, Hypertonia, Ataxia, Motor stereotypy, Self-injurious behavior, R... OMIM:300986
Coffin-Siris Syndrome 6
Motor stereotypy, Anxiety, Tics OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Aggressive behavior OMIM:618825
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Poor eye contact ORPHA:411986
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Aggressive be... OMIM:618914
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Tremor, Aggressive behavior OMIM:618342
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Aggressive behavior, Irritability ORPHA:391307
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia... ORPHA:208447
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Aggressive behavior, Spastic tetraple... OMIM:619121
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Self-injurious behavior ORPHA:238750
Snijders Blok-Campeau Syndrome
Motor stereotypy, Speech apraxia OMIM:618205
Distal Xq28 Microduplication Syndrome
Impulsivity, Poor eye contact, Stereotypical body rocking, Depression, Anxiety, Self-biting, Aggr... ORPHA:293939
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting, Inappropriate crying ORPHA:77299
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor ORPHA:10
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor OMIM:619428
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... OMIM:300912
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Aggressive behavior, Self-biting ORPHA:3306
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Ataxia, Recurrent hand flapping, Tongue thrusting, Inappropriate laughter ORPHA:411511
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping OMIM:620021
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Self-mutilation,... OMIM:123450
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Chorea, Spasticity, Eyelid myoclonus ORPHA:178469
Atypical Werner Syndrome
Hyperinsulinemia, Glycosuria, Osteolytic defects of the phalanges of the hand, Abnormality of cir... ORPHA:79474
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Leprechaunism
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Hyperinsuline... ORPHA:508
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Anxiety, Oromotor apraxia, Spasticity, Repetitive compulsive behavior ORPHA:391372
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, Self-mutilation OMIM:182290
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Reduced C-peptide level, Recurrent hypog... ORPHA:2126
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance OMIM:300486
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior OMIM:619435
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Inappropria... ORPHA:98794
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Aggressive behavior OMIM:619680
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Hyperlipidemia, Decreased response ... ORPHA:3464
Shukla-Vernon Syndrome
Motor stereotypy OMIM:301029
Rett Syndrome
Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Motor deterioration, Gait ataxia, Spas... OMIM:312750
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia OMIM:619877
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Prader-Willi Syndrome
Adrenal insufficiency, Abdominal obesity, Precocious puberty, Type II diabetes mellitus, Hyperins... OMIM:176270
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rigidity, ... ORPHA:217253
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Speech apraxia, Aggressive behavior, Spasticity, Impaired social in... OMIM:300352
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing OMIM:619854
Potocki-Lupski Syndrome
Motor stereotypy, Poor eye contact OMIM:610883
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Incoordination, Motor stereotypy, Gait ataxia OMIM:616579
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... ORPHA:522077
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping OMIM:613192
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Radio-Tartaglia Syndrome
Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Tremor, Aggressive behavior OMIM:619312
22Q11.2 Duplication Syndrome
Motor stereotypy, Anxiety ORPHA:1727
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Anxiety, Irritability OMIM:617796
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy OMIM:618504
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Motor stereotypy, Low frustration tolerance OMIM:619293
Angelman Syndrome
Happy demeanor, Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Myocl... ORPHA:72
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Spastic diplegia, Delayed social development, Spasticity, Spastic ... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Tremor, Self-injurious behavior, Aggressive behavior OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... ORPHA:261197
Rauch-Steindl Syndrome
Motor stereotypy, Anxiety, Aggressive behavior OMIM:619695
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hair-pulling, Myoclonic spasms, Clonus, Lower limb spasticity, Irri... ORPHA:447997
White-Sutton Syndrome
Overfriendliness, Motor stereotypy, Self-injurious behavior, Anxiety, Tics, Aggressive behavior, ... OMIM:616364
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Self-injurious behavior, Poor eye contact, Limb hypertonia, Spasticity ORPHA:457351
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Self-mutilation, Tremor, Gait ataxia, Aggressive behavior ORPHA:476126
Kleefstra Syndrome 1
Motor stereotypy, Apathy, Aggressive behavior OMIM:610253
Transketolase Deficiency
Motor stereotypy, Self-injurious behavior ORPHA:488618
Smith-Magenis Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior ORPHA:819
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy OMIM:616351
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Poor eye contact OMIM:300672
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Anxiety, Aggressive b... OMIM:156200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Spasticity, Inappropriate laughter OMIM:615802
Rett Syndrome
Motor stereotypy, Limb apraxia, Bradykinesia, Stereotypical hand wringing ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Head-banging OMIM:619103
Phelan-Mcdermid Syndrome
Motor stereotypy, Poor eye contact, Tongue thrusting, Aggressive behavior, Impaired social intera... OMIM:606232
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia OMIM:607625
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Aggressive behavior, Low frustration tolerance ORPHA:457279
Chromosome 5P13 Duplication Syndrome
Motor stereotypy OMIM:613174
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Aggressive behavior, Self-mutilation OMIM:212066
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
D-Glyceric Aciduria
Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia OMIM:220120
Coffin-Siris Syndrome 7
Motor stereotypy OMIM:618027
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Tics, Spasticity, Emotional lability, Impaired social interactions, Hyp... OMIM:619475
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Type II diabetes mellitus, Reduced bone mi... ORPHA:99226
Wiedemann-Steiner Syndrome
Motor stereotypy, Anxiety, Psychomotor deterioration, Aggressive behavior, Low frustration tolerance ORPHA:319182
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy OMIM:617802
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Myoclonus, Stereotypical hand wringing, Tremor, Spasticity, Upper limb ... OMIM:619229
Cystinosis
Motor stereotypy, Abnormal pyramidal sign ORPHA:213
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia ORPHA:496641
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Impulsivity, Poor eye contact, Unilateral vocal cord paralysis, Shyness, Spasti... OMIM:301030
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Self-injurious behavior, Recurrent hand flapping OMIM:615485
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior OMIM:610954
Optic Atrophy-Intellectual Disability Syndrome
Spasticity, Repetitive compulsive behavior ORPHA:401777
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Aggressive behavior, Self-mutilation ORPHA:261494
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia ORPHA:435638
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy OMIM:615873
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired socia... ORPHA:177907
21Q22.11Q22.12 Microdeletion Syndrome
Stereotypical body rocking, Self-injurious behavior, Tongue thrusting, Inappropriate crying ORPHA:261323
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Poor coordination, Anxiety, Aggressive behavior, Spasticity OMIM:618430
White-Sutton Syndrome
Motor stereotypy, Incoordination, Self-injurious behavior, Aggressive behavior ORPHA:468678
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
7Q11.23 Microduplication Syndrome
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Aggressive behavior, Impaired soci... ORPHA:96121
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting ORPHA:98795
Dilated Cardiomyopathy With Ataxia
Action tremor, Ataxia, Lower limb spasticity, Repetitive compulsive behavior ORPHA:66634
Bainbridge-Ropers Syndrome
Hypertonia, Recurrent hand flapping ORPHA:352577
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... OMIM:619991
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Head-banging, Self-injurious behavior OMIM:619575
Tenorio Syndrome
Hypoglycemia, Osteopenia, Hypoinsulinemia OMIM:616260
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
2Q37 Microdeletion Syndrome
Motor stereotypy ORPHA:1001
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Self-injurious behavior, Abnormal pyramidal sign, Hyperkinetic move... ORPHA:468631
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... ORPHA:353281
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Self-mutilation OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 22
Stereotypical hand wringing OMIM:612337
Mucopolysaccharidosis Type 2
Motor stereotypy, Impulsivity, Cognitive impairment, Mental deterioration, Progressive neurologic... ORPHA:580
Pyruvate Carboxylase Deficiency
Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Abnormal pyramidal sign, Tremor ORPHA:3008
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, No social interaction, Opisthotonus ORPHA:508533
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Hyperinsulinemia, Elevated circulating growth hor... ORPHA:79318
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia OMIM:619777
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:619512
Tuberous Sclerosis Complex
Impulsivity, Self-injurious behavior, Abnormal social behavior, Depression, Anxiety, Aggressive b... ORPHA:805
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Aggressive behavior OMIM:301066
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Anxiety ORPHA:464311
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity OMIM:301040
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Anxiety ORPHA:464306
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia OMIM:617330
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Tongue thrusting, Hemiparesis ORPHA:369950
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Ataxia, Poor gross motor coordination, Hand tremor, Dysmetria, Gait ataxia, Agg... OMIM:614756
Dpagt1-Cdg
Hypertonia, Head-banging, Ataxia, Stereotypical body rocking, Emotional blunting, Tremor, Aggress... ORPHA:86309
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Motor stereotypy OMIM:619297
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Impulsivity, Self-mutilation, Spastic diplegia, Limb hypertonia, Cerebral palsy, Stereoty... OMIM:619950
Cardiofaciocutaneous Syndrome 1
Hypertonia, Tongue thrusting, Oculomotor apraxia OMIM:115150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... ORPHA:353277
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Motor stereotypy, Poor eye contact OMIM:301044
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Self-injurious behavior, Depression, Anxiety, Clonus ORPHA:534
Alström Syndrome
Precocious puberty in females, Hyperlipidemia, Decreased circulating T4 concentration, Type II di... ORPHA:64
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking ORPHA:513456
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Mgat2-Cdg
Stereotypical hand wringing ORPHA:79329
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Irritability OMIM:300855
Norrie Disease
Motor stereotypy, Hypertonia, Self-injurious behavior, Anxiety, Clonus, Irritability ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Ataxia, Anxiety, Stereotypical hand wringing, Aggressive behavior ORPHA:268261
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aggressive behavior OMIM:309000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Spastic diplegia, Poor coordination OMIM:309590
Arboleda-Tham Syndrome
Motor stereotypy, Lower limb hypertonia OMIM:616268
1P36 Deletion Syndrome
Hemiplegia/hemiparesis, Motor stereotypy, Self-injurious behavior ORPHA:1606
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Hyperinsulinemic hypoglycemia ORPHA:2968
Primrose Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Anxiety, Tics, Aggressive behavior OMIM:259050
Coffin-Siris Syndrome 12
Motor stereotypy OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Exaggerated startle response OMIM:619522
Wolf-Hirschhorn Syndrome
Motor stereotypy OMIM:194190
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Myoclonus, Involuntary movements, Stereotypical hand wringing, Exaggerated startle response ORPHA:438213
Mowat-Wilson Syndrome
Motor stereotypy, Happy demeanor, Ataxia, Anxiety, Spasticity, Impaired social interactions ORPHA:2152
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Impulsivity, Stereotypical body rocking, Low frustration tolerance OMIM:619503
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Happy demeanor, Poor fine motor coordination, Spasticity ORPHA:261537
Non-Specific Syndromic Intellectual Disability
Speech apraxia, Panic attack ORPHA:528084
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Happy demeanor, Poor fine motor coordination, Spasticity 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)