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

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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

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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
Poor coordination, Aggressive behavior, Ataxia, Spasticity, Anxiety OMIM:618430
Non-Specific Syndromic Intellectual Disability
Panic attack, Speech apraxia 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
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Pick Disease Of Brain
Apathy, Inappropriate laughter, Stereotypy, Emotional blunting, Diminished motivation, Irritabili... OMIM:172700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper ... ORPHA:401901
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300425
Autism
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608636
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly, Cerebral atrophy OMIM:614023
Childhood Disintegrative Disorder
Dementia, Motor deterioration, Social and occupational deterioration, Stereotypy, Mental deterior... ORPHA:168782
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre... ORPHA:280397
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyramidal motor function... ORPHA:275864
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia OMIM:617270
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Dementia, Choreoathetosis, Cognitive impairment, Parkinsonism, Depression,... OMIM:616413
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Apathy, Stereotypy, Emotional lability, Disinhibition, Spasticity, Frontotemporal ... OMIM:612069
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Stereotypy OMIM:606053
Creutzfeldt-Jakob Disease
Dementia, Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety... OMIM:123400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Inappropriate behavior, Rigidity, Aggressive behavior, Myoclonus, Apathy, Stereoty... OMIM:600795
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Parkinsonism, Anxiety, Dep... OMIM:615483
Smith-Magenis syndrome
Self-mutilation, Stereotypy DECIPHER:8
Huntington Disease-Like 2
Dementia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Geniospasm 1
Anxiety, Chin myoclonus OMIM:190100
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety, Depression OMIM:605909
Myoclonus-Dystonia Syndrome
Limb myoclonus, Torticollis, Myoclonus, Spinal myoclonus, Personality disorder, Panic attack, Anx... ORPHA:36899
Huntington Disease-Like 1
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Anxiety, Depression OMIM:603218
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety, Depression OMIM:159900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Childhood-Onset Benign Chorea With Striatal Involvement
Parkinsonism with favorable response to dopaminergic medication, Chorea, Anxiety ORPHA:494541
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movement... ORPHA:397933
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Chorea, Benign Hereditary
Chorea, Anxiety OMIM:118700
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Frontotemporal demen... ORPHA:412066
N-Acetylaspartate Deficiency
Self-mutilation, Truncal ataxia, Stereotypy OMIM:614063
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Exc... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Spinocerebellar Ataxia 12
Dementia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremo... OMIM:604326
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Depression OMIM:619191
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Stereotypical body rocking, Impulsivity, Recurrent hand f... OMIM:309548
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Stereotypical body rocking, Impulsivity, Recurrent hand flapping ORPHA:100973
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Intrauterine growth retardation, Lissencephaly, Pachygyria, Agyria,... OMIM:615411
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300495
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Pandas
Clumsiness, Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Tics, Ir... ORPHA:66624
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Spasticity, Stereotypy OMIM:617393
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Inappropriate laughter, St... OMIM:619150
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... ORPHA:276575
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Delayed pu... OMIM:616033
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hyperprolinemia, Type I
Ataxia, Aggressive behavior, Stereotypy OMIM:239500
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:233810
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... OMIM:604367
Spinocerebellar Ataxia 48
Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deterioration, Parkinsonis... OMIM:618093
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density, Hyperinsulinemia OMIM:618406
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, Hyperkinetic... OMIM:618218
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Chorea, Stereotypical hand wringing OMIM:618760
Mental Retardation, Autosomal Recessive 41
Anxiety, Stereotypy OMIM:615637
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... ORPHA:276556
Obesity, Hyperphagia, And Developmental Delay
Poor eye contact, Stereotypy OMIM:613886
Mental Retardation With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Aggressive behavior, Speech apraxia, Stereotypy, Anxiety OMIM:613670
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Aggressive behavior, Spastic tetraparesis, Stereotypy OMIM:619470
Progressive Non-Fluent Aphasia
Abnormality of extrapyramidal motor function, Apraxia, Frontotemporal dementia, Parkinsonism, Anx... ORPHA:100070
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Stereotypy OMIM:615541
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Irritability, Stereotypical hand wringing, Spasticity ORPHA:500545
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Chromosome 3Q29 Deletion Syndrome
Anxiety, Aggressive behavior, Gait ataxia, Stereotypy OMIM:609425
Foxg1 Syndrome
Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairment, Myocl... ORPHA:561854
Atypical Rett Syndrome
Involuntary movements, Panic attack, Inappropriate crying, Limb myoclonus, Tongue thrusting, Poor... ORPHA:3095
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608049
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Repetitive compulsive behavior, Hypersexuality, Apraxia, Disinhibition, Frontotemporal de... OMIM:607485
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Posterior Cortical Atrophy
Limb apraxia, Speech apraxia, Oculomotor apraxia, Ataxia, Anxiety, Inertia, Memory impairment ORPHA:54247
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation, Microcephaly ORPHA:293
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Stereotypy OMIM:618709
Congenital Generalized Lipodystrophy
Precocious puberty in females, Bone cyst, Insulin resistance, Failure to thrive, Lipodystrophy, A... ORPHA:528
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Myoclonic spasms, Poor motor coordination, Motor deterioration, Cognitive i... ORPHA:79264
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Tremor, Ataxia... OMIM:615157
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Decreased body weight, Short stature, Intrauterine growth retardation, Microcephaly OMIM:618097
Lissencephaly, X-Linked, 1
Pachygyria, Postnatal growth retardation, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Short stature, Cortical dysplasia, Microcephaly OMIM:608278
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia OMIM:618917
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Stereotypy, Ataxia, Spasticity, Impaired social interactions, Progressive la... OMIM:610042
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly, Intrauterine growth retardation, Microcephaly OMIM:306990
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia OMIM:615363
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Dystonia 26, Myoclonic
Torticollis, Myoclonus, Depression, Anxiety, Blepharospasm OMIM:616398
Hypocalcemia, Autosomal Dominant 2
Basal ganglia calcification, Postnatal growth retardation OMIM:615361
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Anxiety, Spastic ataxia, Stereotypy OMIM:618906
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Stereotypy, Tremor, Spasticity OMIM:618718
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Suicidal ideation, Cognitive impairment, Stereotypy, Anxiety, Depression ORPHA:98784
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly OMIM:600546
Choreoacanthocytosis
Dementia, Progressive choreoathetosis, Self-mutilation of tongue and lips due to involuntary move... OMIM:200150
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abnormal circulati... ORPHA:263455
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for... ORPHA:231144
Pontocerebellar Hypoplasia, Type 11
Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Spasticity, Limb ataxia OMIM:617695
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Myoclonus, Oculomotor apraxia, Hypertonia, Ataxia, Disinhibition, Ap... ORPHA:1020
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Microcephaly OMIM:617093
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... ORPHA:96369
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Inappropriate behavior, Chorea, Cognitive impairment, Exa... ORPHA:309246
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Reduced bone mineral density, Osteopenia OMIM:619489
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Dysmetria, Bradykinesia, Intention tremor, Resting tremor, Dysdiadocho... OMIM:300623
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Autosomal Recessive Non-Syndromic Intellectual Disability
Chorea, Stereotypy, Spasticity, Impulsivity, Depression ORPHA:88616
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Lower limb spasticity, Tremor, Resti... ORPHA:3077
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia ORPHA:369873
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Inappropriate laughter, Spasticity OMIM:618859
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fa... ORPHA:2298
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hypercholesterolem... ORPHA:79237
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Stereotypy OMIM:617044
Perry Syndrome
Inappropriate behavior, Rigidity, Suicidal ideation, Apathy, Bradykinesia, Tremor, Disinhibition,... OMIM:168605
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Shyness, Spastic dysarthria, Stereotypy, Spasticity, Progressive spastic paraplegia ORPHA:280763
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia, Anxiety OMIM:606703
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating creatine kinase concentration, Failure to thrive, Lipody... OMIM:613327
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Self-mutilation, Stereotypy, Tremor, Hyperkinetic movements, Anxiety, Depr... ORPHA:457240
Xq28 (MECP2) duplication
Progressive spasticity, Stereotypy, Anxiety, Gait ataxia, Depression DECIPHER:45
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Intrauterine growth retardation, Short stature, Failure ... OMIM:618346
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Poor eye contact, Inappropriate laughter ORPHA:505652
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Stereotypy, Irritability... ORPHA:449291
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormal circulating ... ORPHA:71212
Estrogen Resistance Syndrome
Glucose intolerance, Absence of pubertal development, Osteoporosis, Delayed epiphyseal ossificati... ORPHA:785
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Limb hypertonia, Opisthotonus, Happy demeanor, Choreoathetosis, Paroxysmal bursts of... OMIM:619580
Late Infantile Neuronal Ceroid Lipofuscinosis
Dementia, Motor deterioration, Aggressive behavior, Myoclonus, Cortical myoclonus, Stereotypy, At... ORPHA:168491
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia ORPHA:79319
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Childhood Absence Epilepsy
Limb myoclonus, Low self esteem, Punding, Abnormal social behavior, Anxiety, Depression ORPHA:64280
Young-Onset Parkinson Disease
Dementia, Rigidity, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykinesia, Tremor, Sp... ORPHA:2828
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Self-mutilation OMIM:615516
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia ORPHA:2849
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Cognitive impairment, Stereotypy, Ataxia, Emotional lability, Anxiety ORPHA:927
Christianson Syndrome
Conspicuously happy disposition, Inappropriate laughter, Stereotypy, Truncal ataxia, Gait ataxia ORPHA:85278
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Cerebral palsy, Aggressive behavior, Self-mutilation, Lower limb spasticity, Poor e... ORPHA:163681
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Mental Retardation, Autosomal Dominant 7
Happy demeanor, Inappropriate laughter, Stereotypy, Ataxia, Stereotypical hand wringing, Incoordi... OMIM:614104
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Precocious puberty, Pancreatic islet-ce... OMIM:246200
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Hyperkinetic movements OMIM:619317
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Anxiety, Stereotypy ORPHA:397612
Alstrom Syndrome
Decreased HDL cholesterol concentration, Diabetes insipidus, Insulin-resistant diabetes mellitus,... OMIM:203800
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Anxiety, Aggressive behavior, Stereotypy ORPHA:313892
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Syngap1-Related Developmental And Epileptic Encephalopathy
Poor coordination, Tremor, Ataxia, Impaired social interactions, Recurrent hand flapping ORPHA:544254
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Happy demeanor, Poor eye contact, Stereotypy, Spasticity, Gait ataxia OMIM:617807
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus... ORPHA:208447
Bangstad Syndrome
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... ORPHA:1227
Alazami Syndrome
Anxiety, Self-mutilation, Stereotypical hand wringing, Stereotypy ORPHA:319671
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity ORPHA:352490
Immunodeficiency 54
Intrauterine growth retardation, Short stature, Failure to thrive, Postnatal growth retardation, ... OMIM:609981
Rett Syndrome, Congenital Variant
Athetosis, Inappropriate crying, Chorea, Tongue thrusting, Poor eye contact, Stereotypy, Irritabi... OMIM:613454
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Tongue thrusting, Spasticity ORPHA:77299
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Stereotypy ORPHA:228402
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:608594
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Poor eye contact, Stereotypy, Re... OMIM:300260
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Irritability, Stereotypy ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Stereotypy OMIM:618825
Coffin-Siris Syndrome 6
Tics, Anxiety, Stereotypy OMIM:617808
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Aggressive behavior, Conspicuously happy disposition, Stereotypy, Ataxia... OMIM:300986
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... ORPHA:769
Lamb-Shaffer Syndrome
Abnormal social behavior, Ataxia, Upper motor neuron dysfunction, Stereotypy ORPHA:530983
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissue, Lipodystrop... OMIM:269700
Autosomal Dominant Non-Syndromic Intellectual Disability
Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity ORPHA:178469
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Self-injurious behavior, Aggressive behavior, Stereotypy, Hypertonia, Impulsivity OMIM:618914
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Stereotypy ORPHA:238750
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Poor eye contact, Stereotypy ORPHA:411986
Distal Xq28 Microduplication Syndrome
Self-biting, Aggressive behavior, Poor eye contact, Stereotypical body rocking, Impulsivity, Anxi... ORPHA:293939
Snijders Blok-Campeau Syndrome
Speech apraxia, Stereotypy OMIM:618205
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
48,Xxyy Syndrome
Stereotypy, Tremor, Ataxia, Anxiety, Depression ORPHA:10
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Aggressive behavior, Spastic tetraplegia, S... OMIM:619121
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Lower limb spasticity, Poor eye contact, Stereotypy, Stereotypi... OMIM:300912
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Self-biting, Stereotypy ORPHA:3306
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, Hypertonia OMIM:618916
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Stereotypy, Hypertonia, Ov... OMIM:123450
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Tongue thrusting, Inappropriate laughter, Ataxia, Recurrent hand flapping ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Stereotypy, Low frustration tolerance, Spasticity, Gait ataxia OMIM:300486
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Poor eye contact, Stereotypy, Ataxia, Head tremor, No social interaction OMIM:619428
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Anxiety, Oromotor apraxia, Spasticity ORPHA:391372
Smith-Magenis Syndrome
Self-mutilation, Head-banging, Stereotypy OMIM:182290
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Leprechaunism
Central hypothyroidism, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Failure to thrive,... ORPHA:508
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Myoclonus, Tongue thrusting, Inappropriate laughter, Tremor, Ataxia, Recurrent ha... ORPHA:98794
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
Woodhouse-Sakati Syndrome
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hyp... ORPHA:3464
Shukla-Vernon Syndrome
Stereotypy OMIM:301029
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Reduced C-peptide level, Hypoinsulinemia, Hypo... ORPHA:2126
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, No social interaction, Opisthotonus, Rigidity, Choreoathetosis, Chorea, My... ORPHA:217253
Atypical Werner Syndrome
Insulin-resistant diabetes mellitus, Reduced bone mineral density, Fasting hyperinsulinemia, Lipo... ORPHA:79474
Cerebral Creatine Deficiency Syndrome 1
Poor hand-eye coordination, Aggressive behavior, Stereotypy, Spasticity, Impaired social interact... OMIM:300352
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Choreoathetosis, Self-biting, Chorea, Self-mutilation, Poor eye contact, Stereotypy, Repetitive c... ORPHA:522077
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
Radio-Tartaglia Syndrome
Aggressive behavior, Poor eye contact, Stereotypy, Tremor, Ataxia, Impulsivity OMIM:619312
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy OMIM:618504
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Low frustration tolerance, Stereotypy OMIM:619293
22Q11.2 Duplication Syndrome
Anxiety, Stereotypy ORPHA:1727
Potocki-Lupski Syndrome
Poor eye contact, Stereotypy OMIM:610883
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Aggressive behavior, Stereotypy, Ataxia, Impulsivity OMIM:619435
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Delayed social development, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomo... ORPHA:300570
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Myoclonus, Tongue thrusting, Poor e... ORPHA:72
Niemann-Pick Disease, Type C2
Dementia, Cataplexy, Stereotypy, Ataxia, Spasticity OMIM:607625
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D... ORPHA:453533
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Microcephaly OMIM:615190
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Impaired social interactions ORPHA:261197
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Hair-pulling, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hypertonia, Irritability ORPHA:447997
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Self-injurious behavior, Poor eye contact, Stereotypy, Spasticity ORPHA:457351
Kleefstra Syndrome 1
Aggressive behavior, Apathy, Stereotypy OMIM:610253
Transketolase Deficiency
Self-injurious behavior, Stereotypy ORPHA:488618
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Self-mutilation, Stereotypy, Tremor, Gait ataxia ORPHA:476126
Intellectual Developmental Disorder, Autosomal Dominant 34
Stereotypy OMIM:616351
Rett Syndrome
Limb apraxia, Stereotypical hand wringing, Bradykinesia, Stereotypy ORPHA:778
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Poor eye contact, Stereotypy, Impaired social interactions OMIM:606232
Developmental And Epileptic Encephalopathy 2
Myoclonus, Poor eye contact, Stereotypy OMIM:300672
Smith-Magenis Syndrome
Self-injurious behavior, Anxiety, Stereotypy ORPHA:819
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Stereotypy OMIM:619103
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Low frustration tolerance, Stereotypy ORPHA:457279
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Hypertonia, Self-mutilation, Stereotypy OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Inappropriate laughter, Stereotypy, Hypertonia, Spasticity OMIM:615802
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy ORPHA:500159
Wiedemann-Steiner Syndrome
Aggressive behavior, Stereotypy, Low frustration tolerance, Psychomotor deterioration, Anxiety ORPHA:319182
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Stereotypica... OMIM:619229
Cystinosis
Abnormal pyramidal sign, Stereotypy ORPHA:213
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spasticity ORPHA:496641
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, Glucose intoler... ORPHA:99226
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cerebral palsy, Torticollis, Poor eye contact, Isometric tremor, Stereotypy, Irritability, Anxiet... OMIM:619475
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Spasticity ORPHA:401777
Kleefstra Syndrome
Self-injurious behavior, Aggressive behavior, Self-mutilation, Stereotypy ORPHA:261494
3P25.3 Microdeletion Syndrome
Ataxia, Stereotypy ORPHA:435638
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... ORPHA:273
Helsmoortel-Van Der Aa Syndrome
Stereotypy OMIM:615873
Bainbridge-Ropers Syndrome
Self-injurious behavior, Recurrent hand flapping, Hypertonia, Stereotypy OMIM:615485
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Stereotypical body rocking, Tongue thrusting, Inappropriate crying ORPHA:261323
Megalocornea-Intellectual Disability Syndrome
Ataxia, Stereotypy ORPHA:2479
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Incoordination, Stereotypy ORPHA:468678
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Stereotypy, Abnormal social behavior, Anxiety, Impaired social inte... ORPHA:177907
7Q11.23 Microduplication Syndrome
Dysmetria, Self-injurious behavior, Aggressive behavior, Stereotypy, Anxiety, Impaired social int... ORPHA:96121
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Ataxia, Lower limb spasticity, Action tremor ORPHA:66634
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Aggressive behavior, Ataxia, Spasticity, Anxiety OMIM:618430
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting ORPHA:98795
Bainbridge-Ropers Syndrome
Recurrent hand flapping, Hypertonia ORPHA:352577
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Stereotypy OMIM:619575
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
2Q37 Microdeletion Syndrome
Stereotypy ORPHA:1001
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyr... ORPHA:468631
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Self-mutilation, Stereotypy OMIM:619005
Pyruvate Carboxylase Deficiency
Apathy, Poor eye contact, Tremor, Ataxia, Abnormal pyramidal sign, Recurrent hand flapping ORPHA:3008
Mucopolysaccharidosis Type 2
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Stereotypy, Impu... ORPHA:580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
No social interaction, Hypertonia, Opisthotonus, Stereotypy ORPHA:508533
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia, Osteopenia OMIM:616260
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Repetitive compulsive behavior, Impulsivity, Abnorm... ORPHA:805
Pmm2-Cdg
Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Abnormal subcutaneous fat t... ORPHA:79318
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Anxiety, Stereotypy OMIM:619512
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Stereotypy OMIM:301066
Ogden Syndrome
Hypertonia, Stereotypy OMIM:300855
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Anxiety, Stereotypy ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Anxiety, Stereotypy ORPHA:464306
Dpagt1-Cdg
Aggressive behavior, Tremor, Stereotypical body rocking, Hypertonia, Ataxia, Emotional blunting, ... ORPHA:86309
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Aggressive behavior, Tongue thrusting, Hemiparesis ORPHA:369950
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia OMIM:617330
Cardiofaciocutaneous Syndrome 1
Oculomotor apraxia, Hypertonia, Tongue thrusting OMIM:115150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353277
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
Oculocerebrorenal Syndrome Of Lowe
Clonus, Self-injurious behavior, Stereotypy, Anxiety, Depression ORPHA:534
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Gait ataxia, Stereotypy ORPHA:513456
Alström Syndrome
Precocious puberty in females, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Dor... ORPHA:64
Mgat2-Cdg
Stereotypical hand wringing ORPHA:79329
Norrie Disease
Clonus, Self-injurious behavior, Stereotypy, Hypertonia, Irritability, Anxiety ORPHA:649
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aggressive behavior, Ataxia, Hypertonia, Stereotypical hand wringing, Anxiety ORPHA:268261
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Stereotypy OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Poor eye contact, Stereotypy OMIM:301044
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Stereotypy OMIM:618653
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Arboleda-Tham Syndrome
Lower limb hypertonia, Stereotypy OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Stereotypy OMIM:309590
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Stereotypy OMIM:309000
Primrose Syndrome
Self-injurious behavior, Aggressive behavior, Stereotypy, Tics, Anxiety OMIM:259050
Rubinstein-Taybi Syndrome 1
Abnormal fear/anxiety-related behavior, Poor coordination, Agoraphobia, Self-mutilation, Stereoty... OMIM:180849
1P36 Deletion Syndrome
Self-injurious behavior, Hemiplegia/hemiparesis, Stereotypy ORPHA:1606
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Hyperinsulinemic hypoglycemia ORPHA:2968
Coffin-Siris Syndrome 12
Stereotypy OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Stereotypy OMIM:619522
Wolf-Hirschhorn Syndrome
Stereotypy OMIM:194190
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Myoclonus, Stereotypical hand wringing, Exaggerated startle response ORPHA:438213
Mowat-Wilson Syndrome
Happy demeanor, Stereotypy, Ataxia, Spasticity, Anxiety, Impaired social interactions ORPHA:2152
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Stereotypical body rocking, Low frustration tolerance, Impulsivity OMIM:619503
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Poor fine motor coordination, Happy demeanor, Spasticity, Stereotypy ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Poor fine motor coordination, Happy demeanor, Spasticity, Stereotypy ORPHA:261552
Non-Specific Syndromic Intellectual Disability
Panic attack, Speech apraxia ORPHA:528084

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)