Not currently registered for phenotyping at IMPC

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

Gene Summary

tenascin C
Hxb,  TN-C,  TN,  C130033P17Rik,  tenascin-C,  cytotactin,  hexabrachion

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Dominant 56

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

Disease Similarity of
Matching phenotypes Source
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Geniospasm 1
Anxiety OMIM:190100
Autism, Susceptibility To, X-Linked 3
Increased serum serotonin, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Increased serum serotonin, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Increased serum serotonin, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Increased serum serotonin, Stereotypy OMIM:300425
Increased serum serotonin, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, Stereotypy OMIM:608636
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Chorea, Benign Hereditary
Anxiety OMIM:118700
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Gilles De La Tourette Syndrome
Phonic tics, Attention deficit hyperactivity disorder, Motor tics OMIM:137580
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Myoclonus-Dystonia Syndrome
Panic attack, Personality disorder, Anxiety, Depression ORPHA:36899
Dystonia 11, Myoclonic
Agoraphobia, Anxiety, Depression OMIM:159900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity ORPHA:100973
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Stereotypy, Spasticity OMIM:617393
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Huntington Disease-Like 2
Dementia, Depression, Apathy, Irritability, Anxiety OMIM:606438
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Myoclonus, Hy... ORPHA:248111
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity ORPHA:85288
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Mental Retardation, Autosomal Recessive 39
Stereotypy, Hyperactivity OMIM:615541
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Attention deficit hyperactivity disorder, Increa... OMIM:188570
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Myoclonus, Babinski sign, Stereotypy, Rigidity OMIM:600795
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Spasticity OMIM:300983
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... OMIM:618917
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Stereotypy, Hyperactivity OMIM:609425
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Progressive spastic parap... ORPHA:280763
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereotypy, Broad-... OMIM:617695
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia OMIM:613670
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperactivity OMIM:605899
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Poor motor coordination, Abnormal pyramidal sign, Tetrapar... ORPHA:363400
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... ORPHA:561854
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hypertonia, Lethargy, Hyperactivity OMIM:274270
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Impaired pain sensation, Abnormality of extrapyramidal ... ORPHA:500180
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral palsy, Attention ... ORPHA:352490
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618906
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Increased circ... ORPHA:43
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity OMIM:618504
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Increased serum leptin, Gait distu... ORPHA:778
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Autism, Susceptibility To, 3
Increased serum serotonin, Stereotypy OMIM:608049
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Stereotypy, Upper motor neuron dy... ORPHA:275864
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling gait, Broad... ORPHA:3077
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia OMIM:618205
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Vocal cord paralysi... OMIM:168000
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysis, Elevated circulati... OMIM:605373
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Lennox-Gastaut Syndrome
Falls, Myoclonus, Hyperactivity ORPHA:2382
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy, Decreased re... ORPHA:457240
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity OMIM:617302
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Impaired pain sensation ORPHA:505652
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Abnormality of pain sensation, Recurrent han... ORPHA:544254
Mental Retardation, Autosomal Dominant 7
Incoordination, Gait disturbance, Ataxia, Stereotypy, Hyperactivity, Stereotypical hand wringing OMIM:614104
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 98
Stereotypy, Hyperactivity, Ataxia, Spasticity OMIM:300912
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Male hypogonadism, Difficulty walking, Primary adrenal... ORPHA:139396
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Lower limb spasticity, B... OMIM:609727
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Stereotypy ORPHA:85278
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait, Spasticity ORPHA:457260
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity OMIM:617773
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Hyperactivity, Ataxia, Spasticity OMIM:610042
Lamb-Shaffer Syndrome
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimuation test, Spasticity OMIM:615286
Bilateral Generalized Polymicrogyria
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Oculogyric crisis, Spastic tetraplegia, Stereo... ORPHA:208447
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Xq28 (MECP2) duplication
Inability to walk, Progressive spasticity, Gait ataxia, Stereotypy DECIPHER:45
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Unsteady gait, Stereotypy, Spasticity OMIM:617807
Landau-Kleffner Syndrome
Gait ataxia, Speech apraxia, Slurred speech, Hyperactivity, Steppage gait, Frequent falls, Attent... ORPHA:98818
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... OMIM:608643
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Poor motor coordination, Poor fine motor coordination, Loss of ability to walk, Parki... ORPHA:79264
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
48,Xxyy Syndrome
Tremor, Hypergonadotropic hypogonadism, Ataxia, Stereotypy, Type II diabetes mellitus, Attention ... ORPHA:10
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Hyperactivity OMIM:271980
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Oculogyric crisis, Stereotypy, Spasticity ORPHA:178469
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spasticity, Unsteady gai... ORPHA:485350
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... OMIM:610217
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Gait disturbance, Ataxia, Myoclonus, Stereotypy, Hyperacti... ORPHA:168491
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy, Impaired pain sensation OMIM:616579
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Stereotypy ORPHA:411986
2Q23.1 Microdeletion Syndrome
Stereotypy, Ataxia, Hyperactivity ORPHA:228402
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hypothyroidism, Recurrent hand flapping, Stereotypy, Hyperactivity, Diabetes mellitus, Hyperthyro... ORPHA:449291
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Scissor ... OMIM:619121
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypothyroidism, Repetitive compulsive behavior, Diabetes mellitus, Attention de... ORPHA:391372
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Precocious puberty, Stereotypy, Hyperactivity ORPHA:3306
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Stereotypy OMIM:617808
Smith-Magenis Syndrome
Impaired pain sensation, Abnormality of the thyroid gland, Stereotypy, Hyperactivity OMIM:182290
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperactivity, Gait imbalan... ORPHA:98794
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:98784
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemiparesis, Hemidystonia, Involuntary movements, Attention def... ORPHA:1929
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stereotypy, Paraplegia, Lethargy, Ataxia ORPHA:927
Intellectual Disability, Birk-Barel Type
Tongue fasciculations, Fatiguable weakness of proximal limb muscles, Fatigable weakness of skelet... ORPHA:166108
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Broad-based gait, Spasticity OMIM:300958
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Pick Disease Of Brain
Stereotypy OMIM:172700
Nephrogenic diabetes insipidus, Hypothyroidism, Gait disturbance, Abnormal pyramidal sign, Delaye... ORPHA:213
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Stereotypy, Hyperactivity ORPHA:391307
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Dystonia, Apraxia, Clumsiness, Incoordination, Hypoparathyroidism, Hy... ORPHA:209905
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... ORPHA:1942
Potocki-Lupski Syndrome
Hypothyroidism, Stereotypy, Hyperactivity OMIM:610883
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Stereotypy, Decreased response to growth hormone stimuation test OMIM:615873
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Hyperactivity OMIM:275000
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Hyperactivity, Cerebral... ORPHA:760
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Poor hand-eye coordination, Stereotypy, Attention deficit hyperactivi... OMIM:300352
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Unsteady gait,... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dystonia, Abnormality of extrapyramidal moto... OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Delayed puberty, Hyperactivity, Hypogonadism OMIM:300354
Angelman Syndrome Due To A Point Mutation
Ataxia, Tongue thrusting, Recurrent hand flapping, Gait imbalance, Broad-based gait ORPHA:411511
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Hyperactivity ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Chorea, Pain insensitivity, Ataxia, Lower limb spasticity, Stereotypy, Progres... OMIM:300260
Mental Retardation, Autosomal Dominant 34
Stereotypy, Broad-based gait OMIM:616351
Radio-Tartaglia Syndrome
Tremor, Ataxia, Stereotypy, Precocious puberty, Gait imbalance, Attention deficit hyperactivity d... OMIM:619312
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Stereotypy, Choreoathetosis, Attention deficit h... ORPHA:261197
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping OMIM:617268
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Aplasia/Hypoplasia of the thymus, Stereotypy ORPHA:1727
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia, Hyperactivity OMIM:609152
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Chorea, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
4Q21 Microdeletion Syndrome
Tremor, Stereotypy ORPHA:238750
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Hypertonia, Ataxia, Decreased response to growth hormone stimuation test OMIM:601853
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Tremor, Increased circulating T4 level, Graves disease, Goiter, Hy... ORPHA:525731
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Stereotypy, Hyperactivity OMIM:123450
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Smith-Magenis Syndrome
Hypothyroidism, Gait disturbance, Delayed puberty, Stereotypy, Impaired pain sensation, Precociou... ORPHA:819
Transketolase Deficiency
Attention deficit hyperactivity disorder, Type I diabetes mellitus, Stereotypy ORPHA:488618
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Attention deficit hyperactivity disorder, Tip-toe gait, Stereotypical body rocking ORPHA:293939
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Opisthotonus, Myoclonus, Hyperactivity, Spasticity OMIM:103050
Mend Syndrome
Hypertonia, Hyperactivity OMIM:300960
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Hypertonia, Myoclonus ORPHA:289266
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Torticollis, S... ORPHA:300570
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity ORPHA:401777
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Hyperactivity OMIM:614613
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Stereotypy OMIM:619293
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait ORPHA:98795
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Childhood Absence Epilepsy
Punding, Limb myoclonus, Attention deficit hyperactivity disorder ORPHA:64280
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Ataxia, Stereotypy, Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spa... ORPHA:496641
Dilated Cardiomyopathy With Ataxia
Dystonia, Hypothyroidism, Ataxia, Action tremor, Lower limb spasticity, Repetitive compulsive beh... ORPHA:66634
3P25.3 Microdeletion Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Ataxia ORPHA:435638
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Precocious puberty in females, Tongue thrusting, Myoclonus, Re... ORPHA:72
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Upper limb spasticity, Ataxia, Lower limb spasticity, Myoclonus, Stere... OMIM:619229
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia, Stereotypy, Athetoid cerebral pa... ORPHA:522077
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
47,Xyy Syndrome
Hyperactivity, Increased circulating gonadotropin level, Attention deficit hyperactivity disorder... ORPHA:8
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Fragile X Syndrome
Hyperactivity OMIM:300624
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Hypothyroidism, Ataxia ORPHA:2479
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Poor coordination, Ataxia, Spasticity OMIM:618430
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Stereotypy ORPHA:500159
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, Hyperactivity, Broad-based gait OMIM:105830
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:476126
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:619103
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
Bainbridge-Ropers Syndrome
Inability to walk, Hypertonia, Recurrent hand flapping ORPHA:352577
Phelan-Mcdermid Syndrome
Unsteady gait, Tongue thrusting, Stereotypy, Impaired pain sensation, Broad-based gait OMIM:606232
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Limb hypertonia, Limb dystonia, Stereotypy, Spasticity ORPHA:457351
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Stereotypy OMIM:300672
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity OMIM:300486
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Lower limb spasticity, Stereotypy, Hyperactivity, Clonus, Myoclonic spasms ORPHA:447997
Hypertonia, Stereotypy ORPHA:79155
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Cerebral palsy, Stereotypy OMIM:618914
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Stereotypy ORPHA:1001
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Stereotypy, Unsteady gait, Ataxia ORPHA:457279
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy OMIM:618825
Macrocephaly-Developmental Delay Syndrome
Stereotypy ORPHA:397612
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypothyroidism, Gait disturbance, Spasticity, Hyper... ORPHA:363528
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Congenital Disorder Of Glycosylation, Type Iia
Unsteady gait, Hypertonia, Stereotypy OMIM:212066
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Decreased response to growth hormone sti... ORPHA:485405
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Tics, Lower limb spasticity, Hyperactivity ORPHA:363686
Hypertonia, Head titubation, Progressive inability to walk, Falls, Hyperactivity, Phonic tics, Im... ORPHA:2388
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Tremor, Broad-based gait, Hyperactivity ORPHA:85293
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Spastic paraparesis, Progressive spastic quadriplegia, Spastic gait, Hyperactivity, Frequent falls OMIM:207800
White-Sutton Syndrome
Incoordination, Stereotypy, Hyperactivity ORPHA:468678
16P11.2P12.2 Microdeletion Syndrome
Tics, Impaired pain sensation, Hyperactivity ORPHA:261211
Citrullinemia Type Ii
Hyperactivity, Tremor, Lethargy, Delayed menarche ORPHA:247585
Hypotonia, Ataxia, And Delayed Development Syndrome
Gait ataxia, Truncal ataxia, Speech apraxia, Pain insensitivity, Ataxia, Stereotypy, Dysmetria, B... OMIM:617330
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Wiedemann-Steiner Syndrome
Hyperactivity, Stereotypy, Decreased response to growth hormone stimuation test ORPHA:319182
21Q22.11Q22.12 Microdeletion Syndrome
Tongue thrusting, Stereotypical body rocking, Hyperactivity ORPHA:261323
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Stereotypy, Impaired pain sensation OMIM:619005
7Q11.23 Microduplication Syndrome
Stereotypy, Unsteady gait, Dysmetria, Hyperactivity ORPHA:96121
Joubert Syndrome 1
Hemifacial spasm, Oculomotor apraxia, Ataxia, Hyperactivity OMIM:213300
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Speech apraxia OMIM:618505
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypertonia, Babinski sign, Stereotypy, Spasticity OMIM:615802
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Spastic tetraparesis, Hyperactivity, Frequent falls ORPHA:239
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Stereotypy, Hypogonadotropic hypogonadism, Attention deficit hyper... ORPHA:177907
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Opisthotonus, Hypertonia, Stereotypy ORPHA:508533
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Ataxia, Recurrent hand flapping, Tip-toe gait ORPHA:3008
Hyperactivity ORPHA:2157
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Attention deficit hyperactivity disorder, Posterior pituitary hypoplasia, Stere... ORPHA:464311
Kleefstra Syndrome 1
Stereotypy OMIM:610253
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Stereotypy, Repetitive compulsive behavior, Pineal cyst, Stereotypical body rocking,... ORPHA:513456
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Apraxia, Parkinsonism OMIM:607485
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Tremor, Dystonia, Myoclonus, Hyperactivity, Choreoathetosis, Precocious puberty,... ORPHA:1934
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Stereotypy, Anterior pituitary hypoplasia ORPHA:464306
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Spastic tetraparesis OMIM:619179
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Congenital hypothyroidism, Elevated circulating parathyroid hormone lev... ORPHA:280651
Mucopolysaccharidosis Type 3
Fatigable weakness of swallowing muscles, Vocal cord paresis, Hypertonia, Abnormal pyramidal sign... ORPHA:581
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paraganglioma, Elevated circulating catecho... ORPHA:892
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Stereotypy OMIM:616682
Kleefstra Syndrome
Stereotypy ORPHA:261494
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Hyperactivity OMIM:256800
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Pheochromocytoma, Carcinoid tumor, Hyperacti... ORPHA:805
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Delayed puberty, Stereot... ORPHA:534
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Tongue thrusting, Hemiparesis, Abnormality of the pineal gland, Broad-based gait ORPHA:369950
Ogden Syndrome
Hypertonia, Stereotypy OMIM:300855
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Stereotypy, Spasticity ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormality of the endocrine system, Broad-based gait, Hypothyroidism, Hypertonia, Gait disturban... ORPHA:268261
Cardiofaciocutaneous Syndrome 1
Hypertonia, Oculomotor apraxia, Tongue thrusting OMIM:115150
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Stereotypy OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Stereotypy, Hyperactivity OMIM:309590
Arboleda-Tham Syndrome
Lower limb hypertonia, Gait imbalance, Stereotypy OMIM:616268
Brooks-Wisniewski-Brown syndrome
Poor coordination, Spastic diplegia, Hyperactivity OMIM:300612
Mucopolysaccharidosis Type 2
Stereotypy, Hyperactivity ORPHA:580
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Involuntary movements, Abnormality of the anterior pituitary, Hypoth... ORPHA:438213
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
1P36 Deletion Syndrome
Hypothyroidism, Gait disturbance, Hemiplegia/hemiparesis, Stereotypy, Hypogonadism ORPHA:1606
Norrie Disease
Hypertonia, Delayed puberty, Stereotypy, Clonus, Diabetes mellitus, Attention deficit hyperactivi... ORPHA:649
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Pain insensitivity, Impaired temperature sensation, Painless fractures due to... ORPHA:642
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Rubinstein-Taybi Syndrome 1
Poor coordination, Unsteady gait, Stereotypy, Hyperactivity, Premature thelarche OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Stereotypy, Hyperactivity ORPHA:353281
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Stereotypy, Hyperactivity ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Stereotypy, Hyperactivity ORPHA:353284
Coffin-Siris Syndrome 12
Hypothyroidism, Stereotypy OMIM:619325
Wolf-Hirschhorn Syndrome
Precocious puberty, Stereotypy OMIM:194190
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypertonia, Spastic tetraparesis, Stereotypy OMIM:301044
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Poor fine motor coordination, Spasticity, Stereotypy, Impaired pain sensation,... ORPHA:261537
Mowat-Wilson Syndrome
Inability to walk, Spasticity, Ataxia, Stereotypy, Impaired pain sensation, Broad-based gait ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Poor fine motor coordination, Spasticity, Stereotypy, Impaired pain sensation,... ORPHA:261552
Lowe Oculocerebrorenal Syndrome
Stereotypy OMIM:309000
Deafness, Autosomal Dominant 56


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 Tnc

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 Tnc.

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

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MGI Allele Allele Type Produced
Tnctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tnctm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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