Gene Summary

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
3526402J09Rik,  5730590C14Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Tanc2em1(IMPC)Hmgu HOM   Early adult 1.43×10-05
short tibia Tanc2em1(IMPC)Hmgu HOM Early adult 1.51×10-05
abnormal bone structure Tanc2em1(IMPC)Hmgu HOM   Early adult 4.42×10-05
abnormal locomotor behavior Tanc2em1(IMPC)Hmgu HOM Early adult 5.66×10-06
hyperactivity Tanc2em1(IMPC)Hmgu HOM Early adult 8.90×10-08
decreased respiratory quotient Tanc2em1(IMPC)Hmgu HOM Early adult 5.62×10-05
increased grip strength Tanc2em1(IMPC)Hmgu HOM Early adult 4.57×10-07
increased exploration in new environment Tanc2em1(IMPC)Hmgu HOM Early adult 1.15×10-05
abnormal behavior Tanc2em1(IMPC)Hmgu HOM Early adult 5.10×10-05
impaired glucose tolerance Tanc2em1(IMPC)Hmgu HOM Early adult 1.07×10-12
decreased thigmotaxis Tanc2em1(IMPC)Hmgu HOM Early adult 5.10×10-05

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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.


XRay Images Whole Body Lateral Orientation

8 Images


XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Tanc2 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 Tanc2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Craniosynostosis, Spastic ataxia OMIM:618906
Non-Specific Syndromic Intellectual Disability
Micrognathia, Broad thumb, Impaired tandem gait, Clinodactyly of hallux, Down-sloping shoulders, ... ORPHA:528084

The table below shows human diseases predicted to be associated to Tanc2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Anxiety, Depression OMIM:614296
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lytic defects of humeral diaphysis, Fibular hyp... OMIM:601376
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Insulin-Like Growth Factor I Deficiency
Micrognathia, Osteopenia, Radial deviation of finger, Hyperactivity, Clinodactyly OMIM:608747
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Brachydactyly DECIPHER:8
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Immunodeficiency 8
Hyperactivity OMIM:615401
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Eiken Syndrome
Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Metaphyseal irregularity, E... ORPHA:79106
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Clinodactyly of the 5th finger, Impulsivity ORPHA:100973
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Chromosome 3Q29 Deletion Syndrome
Tapered finger, Long fingers, Aggressive behavior, Hyperactivity, Anxiety, Clinodactyly of the 5t... OMIM:609425
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Tapered finger, Impulsivity OMIM:616977
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... ORPHA:248111
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Usmani-Riazuddin Syndrome, Autosomal Dominant
2-3 toe syndactyly, Short finger, Self-injurious behavior, Aggressive behavior, Pes planus, Hyper... OMIM:619467
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Talipes equinovarus, Small hand, Hyperactivity, Short foot, Hip dislocation OMIM:300434
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergrowth, Oligodac... OMIM:251230
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Talipes equinovarus ORPHA:85288
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Short humerus,... OMIM:607143
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Dystonia, Hyperactivity, Ataxia OMIM:615924
Ck Syndrome
Micrognathia, Aggressive behavior, Abnormal cortical bone morphology, Abnormal digit morphology, ... OMIM:300831
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly OMIM:300928
Obesity Due To Sim1 Deficiency
Glucose intolerance, Cognitive impairment, Attention deficit hyperactivity disorder, Hyperinsulin... ORPHA:369873
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Ck Syndrome
Long fingers, Aggressive behavior, Hyperactivity, Irritability, Long toe, Microretrognathia ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Talipes equinovarus, Tapered finger, Aggressive behavior, Hyperactivity, Pes cavus OMIM:617773
Hyperphosphatasia With Mental Retardation Syndrome 6
2-3 toe syndactyly, Shortening of all distal phalanges of the fingers, Aggressive behavior, Limb ... OMIM:616809
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Clinodactyly, Sandal gap OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Gand Syndrome
Hyperactivity, Long fingers, Long toe, Inappropriate laughter OMIM:615074
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Self-mutilation, Sandal gap, Hyperactivity, Unsteady gait OMIM:615516
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement of thumb, Hy... OMIM:609945
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Femoral-Facial Syndrome
Micrognathia, Maternal diabetes, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fi... ORPHA:1988
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... OMIM:250215
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Pes planus, Hyperactivity, Progressive cerebellar a... ORPHA:485350
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Short metatarsal, Aggressive behavior, Hyperactivity, Short metacarpal, ... OMIM:600430
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... OMIM:600081
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Short metatarsal, Hyperactivity, Short metacarpal, Diabetes mellitus, Shor... OMIM:614613
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Abnormal foot morphology, Happy demeanor, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:264700
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Hyperactivity, A... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Small hand, Pes planus, Sandal gap, Hyperactivity, Pes cavus, S... OMIM:300354
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Postaxial polydactyly OMIM:615824
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:277440
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Sandal gap, Hyperactivity, Ataxia, Hip dy... ORPHA:228402
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... ORPHA:96369
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Dyggve-Melchior-Clausen Disease
Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Iliac crest serration, Abnor... ORPHA:239
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior, Prominent fingertip pads OMIM:300558
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Cone-s... ORPHA:397973
Alazami-Yuan Syndrome
Hyperactivity, Broad hallux OMIM:617126
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Craniosynostosis, Spastic ataxia OMIM:618906
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Rubinstein-Taybi Syndrome 2
Micrognathia, Hyperactivity, Syndactyly, Broad hallux, Broad thumb OMIM:613684
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Inappropriate sexual behav... ORPHA:43
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tapered finger, Small hand, Pes planus, Sandal gap, Hyperactivity, Short foot, Clinodactyly OMIM:618089
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Pes planus, Hyperactivity, Irritability, Diabetes m... ORPHA:449291
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hallux valgus, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Hyperactivity,... ORPHA:485405
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ... OMIM:617925
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Hallux valgus, Micrognathia, Happy demeanor, Inappropriate laughter, Hyperactiv... OMIM:614104
Coffin-Siris Syndrome 7
Hyperactivity, Sagittal craniosynostosis, Clinodactyly, Brachydactyly OMIM:618027
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Omodysplasia 1
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... OMIM:258315
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Hypoglycemia, Insulin resistance, Osteoporosis, Hyperactivity, Clinodactyly of the ... ORPHA:73272
Cri-Du-Chat Syndrome
Metatarsus adductus, Short metatarsal, Aggressive behavior, Conspicuously happy disposition, Self... OMIM:123450
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
19P13.3 Microduplication Syndrome
Micrognathia, Self-injurious behavior, Long fingers, Osteoporosis, Hyperactivity, Hip subluxation... ORPHA:447980
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing, Increased bone mineral... OMIM:166740
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Long fingers, Hyperactivity, Overlapping fingers, Microretrognat... OMIM:300960
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Micrognathia, Aggressive behavior, Craniosynostosis, Radial deviation of finger, ... OMIM:609625
Inverted Duplicated Chromosome 15 Syndrome
2-3 toe syndactyly, Talipes equinovarus, Self-biting, Aggressive behavior, Hyperactivity, Clinoda... ORPHA:3306
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Craniosynostosis, Hyperactivity, Ataxia, Depressio... OMIM:601853
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... ORPHA:168491
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Short thum... OMIM:227270
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Psychomotor d... ORPHA:35069
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Rickets, Delayed epip... ORPHA:289157
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... OMIM:300554
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Preaxial polydactyly, Hyperactivity, Ataxia, ... ORPHA:163681
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Syndactyly, Unsteady gait, Attention deficit hyperactivity disorder, Abnor... ORPHA:1942
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Talipes calcaneovalgus, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emo... OMIM:610217
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, 2-3 toe syndactyly ORPHA:391307
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... OMIM:263520
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Occipital Horn Syndrome
Absent tibia, Rickets, Aplastic clavicle, Pes planus, Osteomalacia, Humerus varus, Osteoporosis, ... ORPHA:198
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration, Dense calvaria OMIM:252920
Smith-Magenis Syndrome
Self-mutilation, Pes planus, Hyperactivity, Short palm, Head-banging, Brachydactyly OMIM:182290
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Abnormal foot morphology, Tapered finger, Aggressive behavior, Hyperactivity, Ataxia, Anxiety, Cl... OMIM:618430
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Contractures involving the joints of the feet, Micr... ORPHA:166108
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Micrognathia, Long fingers, Self-mutilation, Broad distal phalanx of finger, Inappropriate laught... ORPHA:363686
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Aggressive behavior, Small hand, Sandal gap, Hyperactivity, Down-sloping shoulder... ORPHA:85293
Dent Disease 1
Tibial bowing, Fibular bowing, Thin bony cortex, Bowing of the legs, Rickets, Metaphyseal irregul... OMIM:300009
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity, Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb ORPHA:412035
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
Glass Syndrome
Micrognathia, Happy demeanor, Talipes equinovarus, Aggressive behavior, Arachnodactyly, Hyperacti... OMIM:612313
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Talipes equinovarus, Large hands, Aggressive behavior, Talipes calcaneovarus, Shuff... OMIM:300534
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Seckel Syndrome 1
Micrognathia, Talipes, Ivory epiphyses, Pes planus, Dislocated radial head, Hypoplasia of proxima... OMIM:210600
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Ophthalmomandibulomelic Dysplasia
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga OMIM:164900
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, Aggressive behavior, Arachnodactyly, Hyperactivity, Emotional lability, Low frustra... OMIM:309520
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Long fingers OMIM:614294
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Craniosynostosis, Finger syndactyly, Sandal gap, Hyperactivity, Toe clin... ORPHA:254346
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Limitation of movement at ankles, Inappropriate laughter, Ataxia,... ORPHA:98794
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Tibial Hemimelia
Absent tibia OMIM:275220
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormal foot morphology, Aggressive behavior, Hyperactivity, Ataxia, Syndactyly, Camptodactyly, ... ORPHA:369891
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Ta... OMIM:114290
Fragile X Syndrome
Hyperactivity, Pes planus OMIM:300624
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Acro-Renal-Mandibular Syndrome
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... ORPHA:958
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Absent thumb OMIM:619239
Lamb-Shaffer Syndrome
Hyperactivity, Micrognathia, Hip dysplasia, Ataxia ORPHA:530983
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Ankle clonus, Mental deter... ORPHA:139396
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the... ORPHA:140
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... ORPHA:1788
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Micrognathia, Talipes equinovarus, Rocker bottom foot, Congenital finger flexio... ORPHA:363528
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Acromesomelia, Short proximal phalanx of the 5th f... ORPHA:261323
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radius OMIM:113470
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration, Dense calvaria OMIM:252930
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Pes valgus, Inappropriate laughter,... ORPHA:72
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Talipes equinovarus, Tapered finger, Aggressive behavior, Hyperactivity, Short thum... OMIM:619148
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Finger clinodactyly, Impulsivity ORPHA:8
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Abnormal foot morphology, Bradykinesia, Depression, Hyperac... OMIM:234200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Gait disturbance, Pes planus, Neonatal hypoglycemia ORPHA:457485
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Hypoplastic scapulae, Missing ribs, Hypoplasia of the radius, Split... OMIM:200980
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Avascular necrosis of the ca... ORPHA:581
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria OMIM:252900
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Craniosynostosis, Irritability ORPHA:525731
Wiedemann-Steiner Syndrome
Tapered finger, Aggressive behavior, Rhizomelia, Hyperactivity, Aplasia/Hypoplasia of the ribs, L... ORPHA:319182
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Clinodactyly of the 5th finger, Anxiety,... OMIM:300912
Citrullinemia Type Ii
Aggressive behavior, Hyperactivity, Irritability, Memory impairment, Lethargy ORPHA:247585
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Aplasia/hypopl... OMIM:276820
Hydrolethalus Syndrome 1
Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication of phalanx of hallux, Post... OMIM:236680
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... ORPHA:3144
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait OMIM:105830
16P11.2P12.2 Microdeletion Syndrome
Toe syndactyly, Proximal placement of thumb, Hyperactivity, Camptodactyly of finger, Short palm, ... ORPHA:261211
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Micrognathia, Hyperactivity, Short thumb, Absent thumb OMIM:617516
Joubert Syndrome 1
Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Postaxial foot polydactyly, Postaxia... OMIM:213300
Distal Monosomy 12Q
2-3 toe syndactyly, Short middle phalanx of finger, Micrognathia, Aplasia/Hypoplasia of the middl... ORPHA:96149
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic iliac wing, Small hand, Hyperactivi... OMIM:235510
Legius Syndrome
Dystonia, Polydactyly, Cognitive impairment, Hyperactivity, Clinodactyly of the 5th finger, Atten... ORPHA:137605
Acrodysostosis With Multiple Hormone Resistance
Cone-shaped epiphysis, Short metatarsal, Hypoplastic vertebral bodies, Absent/hypoplastic paranas... ORPHA:280651
Koolen-De Vries Syndrome
Positional foot deformity, Conspicuously happy disposition, Slender finger, Hyperactivity, Hip di... OMIM:610443
Bone Marrow Failure Syndrome 3
Micrognathia, Metaphyseal dysplasia, Congenital hip dislocation, Reduced bone mineral density, Hy... OMIM:617052
Distal Trisomy 17Q
Hallux valgus, Micrognathia, Rhizomelia, Arachnodactyly, Genu valgum, Hyperactivity, Pes cavus, H... ORPHA:3379
7Q11.23 Microduplication Syndrome
Micrognathia, Self-injurious behavior, Dysmetria, Aggressive behavior, Long fingers, Craniosynost... ORPHA:96121
Smith-Lemli-Opitz Syndrome
Metatarsus adductus, Micrognathia, Talipes calcaneovalgus, 2-3 toe syndactyly, Epiphyseal stippli... OMIM:270400
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Pes cavus OMIM:609727
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Osteop... OMIM:218330
Mend Syndrome
2-3 toe syndactyly, Micrognathia, Long fingers, Aggressive behavior, Hyperactivity, Overlapping f... ORPHA:401973
Hyperactivity, Spastic gait, Irritability OMIM:207800
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Gait disturbance, Hallux valgus, Structural foot deformity, Polydactyly, Arachnod... ORPHA:464306
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Self-injurious behavior, Long fingers, Congenital hip dislocation, Dislocated radia... OMIM:619512
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Witteveen-Kolk Syndrome
Toe syndactyly, Aggressive behavior, Conspicuously happy disposition, Proximal placement of thumb... OMIM:613406
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Sclerosis of skul... OMIM:300373
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Early Infantile Epileptic Encephalopathy
Dystonia, Short finger, Self-injurious behavior, Broad finger, Broad phalanx of the toes, Hyperac... ORPHA:1934
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Talipes equinovarus, Torticollis, Suicidal ideation, Cognitive impair... OMIM:619475
Mucopolysaccharidosis Type 2
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Abnormal epiphys... ORPHA:580
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... OMIM:211910
Charge Syndrome
Bifid femur, Micrognathia, Absent tibia, Hand monodactyly, Self-mutilation, Absent radius, Down-s... OMIM:214800
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Orofaciodigital Syndrome Type 4
Micrognathia, Genu varum, Finger syndactyly, Split hand, Postaxial hand polydactyly, Camptodactyl... ORPHA:2753
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Syndactyly, Broad hallux, Panic attack, Abnormal fear/anxiety-related be... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Syndactyly, Broad hallux, Panic attack, Abnormal fear/anxiety-related be... ORPHA:353277
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... ORPHA:805
Non-Specific Syndromic Intellectual Disability
Micrognathia, Broad thumb, Impaired tandem gait, Clinodactyly of hallux, Down-sloping shoulders, ... ORPHA:528084
Maternal Phenylketonuria
Micrognathia, Bifid distal phalanx of the thumb, Hyperactivity, Clinodactyly, Brachydactyly ORPHA:2209
Kinsship Syndrome
Micrognathia, Polydactyly, Fibular hypoplasia, Pes planus, Dislocated radial head, Osteopenia, Hi... OMIM:619297
Rubinstein-Taybi Syndrome 1
Radial deviation of thumb terminal phalanx, Pes planus, Syndactyly, Broad hallux, Prominent finge... OMIM:180849
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormality of lower limb joint, Hyperactivity, Abnormality of the ankles, Impul... ORPHA:642
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Tapered finger, Craniosynostosis, Small hand, Hyperactivity, Short foot, Brachydact... OMIM:309590
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Hyperactivity, Hip dysplasia, Broad hallux, Clinodactyly of the 5th finger ORPHA:457284
Hyperactivity ORPHA:2157
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Micrognathia, Talipes calcaneovalgus, Paroxysmal bursts of laughter, Talipes equinovarus, Tapered... OMIM:309580
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Tetrasomy 9P
Micrognathia, Inappropriate behavior, Talipes equinovarus, Hypoplastic scapulae, Small toe, Missi... ORPHA:3310
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Talipes, Long fingers, Pes valgus, Pes planus, Congenital hip dislocation, Sh... ORPHA:508488
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Large hands, Clinodactyly of the 5th finger ORPHA:48652


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 Tanc2

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 Tanc2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk. Disease models & mechanisms (March 2022) Tanc2em1(IMPC)Hmgu PMC8906171

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MGI Allele Allele Type Produced
Tanc2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tanc2tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tanc2em1(IMPC)Hmgu Exon Deletion Mice
Tanc2tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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