Gene Summary

Name:
TRAF3 interacting protein 1
Synonyms:
3930402D05Rik,  MIP-T3

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
preweaning lethality, complete penetrance Traf3ip1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Traf3ip1 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 Traf3ip1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Senior-Loken Syndrome
Cone-shaped epiphysis ORPHA:3156

The table below shows human diseases predicted to be associated to Traf3ip1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Edema, Microphthalmia, Rocker bottom foot OMIM:616570
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology ORPHA:294975
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Bilateral microphthalmos, Anophthalmia OMIM:611638
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Nanophthalmos 4
Microphthalmia OMIM:615972
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect OMIM:600776
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Micr... OMIM:603194
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Microphthalmia, Anophthalmia, Talipes equinovarus OMIM:613885
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Microphthalm... ORPHA:1617
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly, Microphthalmia OMIM:610023
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic ilia, Hypoplastic scapulae, Microphthalmia, Spina bifida ... OMIM:169550
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Microphthalmia, Postaxial foot... OMIM:611561
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, Micr... OMIM:300863
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hydrolethalus Syndrome 2
Postaxial polydactyly, Preaxial polydactyly, Hydrocephalus, Anencephaly OMIM:614120
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Polydactyly, Syndactyly, Hydrocephalus OMIM:602501
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Hydrocephalus, Dislocated radial he... OMIM:260660
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Hydro... OMIM:617866
Meckel Syndrome, Type 11
Polydactyly, Oligohydramnios OMIM:615397
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Microphthalmia, Lobar holoprosencephaly ORPHA:2117
Xk Aprosencephaly Syndrome
Polyhydramnios, Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of epiphysis morphology, Rhizomelia, Hemiatrophy, Foot polydactyly, Mi... ORPHA:35173
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Hypoplastic iliac w... ORPHA:163966
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Hydrocephalus, Long fingers OMIM:300960
Craniotelencephalic Dysplasia
Microphthalmia, Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus ORPHA:1528
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Camptodactyly, Second metatarsal posteriorly placed, Microphthalmia, Joint co... OMIM:214150
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Microphthalmia, Postaxial foot polydactyly OMIM:615665
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of... ORPHA:2547
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Camptodactyly, Radial deviation o... OMIM:136760
17Q12 Microduplication Syndrome
Polyhydramnios, Toe syndactyly, Microphthalmia, Finger syndactyly ORPHA:261272
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Hydrocephalus ORPHA:324416
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Hydrolethalus
Polyhydramnios, Postaxial hand polydactyly, Arrhinencephaly, Anencephaly, Microphthalmia, Anophth... ORPHA:2189
Temtamy Syndrome
Microphthalmia, Genu varum, Short toe, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1777
Pierpont Syndrome
Deep palmar crease, Broad palm, Short finger, Short foot, Microphthalmia, Short toe, Prominent fi... OMIM:602342
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia OMIM:218670
Moebius Syndrome
Short phalanx of finger, Split hand, Camptodactyly, Aplasia/Hypoplasia involving the metacarpal b... OMIM:157900
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Pierpont Syndrome
Deep palmar crease, Short finger, Excessive wrinkling of palmar skin, Microphthalmia, Short toe, ... ORPHA:487825
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Microphthalmia, H... OMIM:611134
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Gracile Bone Dysplasia
Aniridia, Slender long bone, Flared metaphysis, Microphthalmia, Ascites, Brachydactyly, Hydroceph... OMIM:602361
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Microphthalmia, Abnorm... ORPHA:93267
Chromosome 1Q41-Q42 Deletion Syndrome
Talipes equinovarus, Holoprosencephaly, Microphthalmia OMIM:612530
Congenital Toxoplasmosis
Microphthalmia, Ascites, Hydrocephalus ORPHA:858
Microphthalmia With Limb Anomalies
Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Bresek Syndrome
Postaxial hand polydactyly, Neonatal death, Optic nerve hypoplasia, Microphthalmia, Hydrocephalus ORPHA:85284
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Pelvis-Shoulder Dysplasia
Dislocated radial head, Spina bifida, Camptodactyly of finger, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Septooptic Dysplasia
Optic disc hypoplasia, Short finger, Optic nerve hypoplasia, Polydactyly OMIM:182230
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Cutaneous finger syndactyly... OMIM:601707
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydacty... OMIM:614091
Cofs Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:1466
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Mosaic Trisomy 1
Polyhydramnios, 2-3 finger syndactyly, Rocker bottom foot, Camptodactyly of finger, Toe syndactyl... ORPHA:1692
Monosomy 18P
Lymphedema, Holoprosencephaly, Brachydactyly, Microphthalmia ORPHA:1598
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Curry-Jones Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Foot polydactyly, Micr... ORPHA:1553
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Oligohydramnios, Forearm undergrowth, Absent radius, Micro... OMIM:251230
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly OMIM:607361
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Bardet-Biedl Syndrome 17
Polydactyly, Brachydactyly, Mesoaxial polydactyly OMIM:615994
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Polydactyly, Syndactyly, Small placenta, Clinodactyly of the 5th finger, Short 5... ORPHA:397590
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, 2-3 toe syndactyly, Joint contracture of the 5th finger, Umbilical hernia,... OMIM:618914
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Epiphyseal stippling, Polydactyly, Hemiatrophy, Postaxial polydactyly, Tarsal sti... OMIM:302960
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Adams-Oliver Syndrome
Absent hand, Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Short distal pha... ORPHA:974
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Microphthalmia, Syndromic 8
Split foot, Microphthalmia OMIM:601349
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Polyhydramnios, Abnormality of long bone morphology, Polydactyly, Abno... ORPHA:1505
Joubert Syndrome 18
Polydactyly, Camptodactyly OMIM:614815
Adams-Oliver Syndrome 2
Single transverse palmar crease, Microphthalmia, Oligohydramnios OMIM:614219
Warburg Micro Syndrome 1
Microphthalmia, Overlapping toe OMIM:600118
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia, Hydrocephalus OMIM:615181
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Dislocated radial head, Flexion contracture of toe, ... OMIM:610758
Endocrine-Cerebroosteodysplasia
Polydactyly, Holoprosencephaly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Ulnar de... OMIM:612651
Joubert Syndrome 14
Microphthalmia, Postaxial polydactyly, Hydrocephalus OMIM:614424
Nephronophthisis 15
Polydactyly OMIM:614845
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Crumpled long bones, Microphthalmia, Metaphyseal widening,... ORPHA:2788
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Trisomy 13
Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Bilateral single tra... ORPHA:3378
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Optic disc hypopla... OMIM:607323
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Microphthalmia, Anophthalmia OMIM:164180
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Clinodactyly of the 5th finger, Upper limb asymmetry ORPHA:231140
Bartsocas-Papas Syndrome 2
Small hand, Cutaneous syndactyly between fingers 2 and 5, Microphthalmia, Absent distal phalanges OMIM:619339
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Abnormality of the elbow, Flat ... ORPHA:163649
3P25.3 Microdeletion Syndrome
2-3 finger syndactyly, Broad thumb, Overlapping toe, Postaxial polydactyly, Acromesomelia, Microp... ORPHA:435638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short phalanx of finger, Short metatarsal, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus OMIM:613153
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Congenital Sialidosis Type 2
Polydactyly, Umbilical hernia, Edema, Ascites, Hypoplasia of the fovea, Hydrocephalus ORPHA:93400
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Postaxial polydactyly, Overlapping toe OMIM:616580
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:48431
Meckel Syndrome, Type 10
Postaxial polydactyly, Anencephaly OMIM:614175
Oculofaciocardiodental Syndrome
Genu valgum, Cubitus valgus, Radioulnar synostosis, Broad palm, 2-3 toe syndactyly, Flexion contr... ORPHA:2712
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Microphthalmia, Postaxial foot polydactyly, Proximal placement o... ORPHA:139471
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Ring Chromosome 10 Syndrome
Tapered finger, Microphthalmia, Sandal gap ORPHA:1438
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Rhombencephalosynapsis
Short phalanx of finger, Finger syndactyly, Polydactyly, Septo-optic dysplasia, Complete duplicat... ORPHA:59315
Mosaic Trisomy 9
Polyhydramnios, Rocker bottom foot, Spina bifida, Deep palmar crease, Camptodactyly of finger, Hy... ORPHA:99776
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Polydactyly, Short 5th metaca... OMIM:169400
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Neu-Laxova Syndrome 1
Polyhydramnios, Rocker bottom foot, Spina bifida, Short umbilical cord, Toe syndactyly, Stillbirt... OMIM:256520
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Postaxial polydactyly, Hydrocephalus OMIM:603387
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Aplast... OMIM:616546
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Polyhydramnios, Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndactyly, Acetabu... OMIM:615503
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos, Cervical spina bifida OMIM:600122
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Aqueductal stenosis, Mic... ORPHA:3412
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Postaxial polydactyly, Hydrocephalus OMIM:219730
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Joubert Syndrome 23
Polydactyly OMIM:616490
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
Roberts Syndrome
Mesomelic arm shortening, Polyhydramnios, Hypoplasia of the radius, Radioulnar synostosis, Synost... ORPHA:3103
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Congenital Rubella Syndrome
Abnormality of the metaphysis, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Bardet-Biedl Syndrome 8
Polydactyly OMIM:615985
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Overlapping toe, Camptodactyly, Distally placed thumb, Anencephaly, Tapere... OMIM:619148
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Martsolf Syndrome 1
Short phalanx of finger, Slender ulna, Short metacarpal, Metatarsus adductus, Microphthalmia, Bro... OMIM:212720
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping fingers, Postaxial polydactyly OMIM:618142
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Bilateral single transverse palmar creases, Clinodactyly, Micr... OMIM:618804
20P13 Microdeletion Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Broad thumb, Microphthalmia OMIM:614526
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia, Tapered finger, Postaxial polydactyly OMIM:613792
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia, Oligohydramnios OMIM:619053
Fanconi Anemia, Complementation Group S
Clinodactyly, Microphthalmia, Proximal placement of thumb OMIM:617883
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Elbow dislocation, Fla... ORPHA:90652
Mental Retardation, Autosomal Dominant 23
Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap OMIM:615761
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Microphthalmia OMIM:610756
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spina bifida, Hand polydactyly, Toe syn... ORPHA:2092
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Subaortic Stenosis--Short Stature Syndrome
Short toe, Short phalanx of finger, Broad toe, Small hand, Microphthalmia, Short foot, Broad fing... OMIM:271960
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Holoprosencephaly, Hydrocephalus, Anophthalmia ORPHA:77298
Joubert Syndrome 15
Polydactyly OMIM:614464
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones ORPHA:3191
Joubert Syndrome 16
Polydactyly OMIM:614465
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the t... ORPHA:1352
Multiple Benign Circumferential Skin Creases On Limbs
Upper limb asymmetry, Edema, Microphthalmia, Umbilical hernia ORPHA:2505
Trisomy 18
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Oligohydramnios, Holoprosencep... ORPHA:3380
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Brachydactyly, Mic... OMIM:617895
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Microphthalmia, Anophthalmia OMIM:147250
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Microphthalmia, H... ORPHA:3301
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Hydrocephalus OMIM:615249
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Short 1st metacarpal, Hy... OMIM:619135
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Short 4th metacarpal, Spina bifida, Polydactyly, Palmar pit... OMIM:109400
1Q21.1 Microdeletion Syndrome
Broad thumb, Hand polydactyly, Toe syndactyly, Broad hallux phalanx, Foot polydactyly, Microphtha... ORPHA:250989
Pseudotrisomy 13 Syndrome
Postaxial hand polydactyly, Holoprosencephaly, 2-3 toe syndactyly, Microphthalmia, Postaxial foot... OMIM:264480
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Foot polydactyly, Microphthalmia, Hydrocephalus, Short palm ORPHA:268249
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Absent thumb OMIM:614083
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Stevenson-Carey Syndrome
Hip dysplasia, Camptodactyly, Microphthalmia, Joint contracture of the hand OMIM:611961
Steinfeld Syndrome
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Aplasia/Hypoplasia of the th... OMIM:184705
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema, Microphthalmia OMIM:152950
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Bilateral single transverse palmar creases, Clinoda... OMIM:244300
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Slender long bones with narrow diaphyses, Increased nuchal trans... ORPHA:3472
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Absent radius, Microphthalmia, Clinodactyl... OMIM:600123
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Abnormality of finger, Elbow dislocation, Arrhinencephaly, Abnormality... ORPHA:2538
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short 1st metacarpal, Optic nerve hypoplasia, Microphthalmia, Short thu... OMIM:609053
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
3-4 toe syndactyly, Sandal gap, Clinodactyly, Microphthalmia, Broad hallux, Brachydactyly OMIM:618727
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Meckel Syndrome
Postaxial hand polydactyly, Preaxial hand polydactyly, Oligohydramnios, Bowing of the long bones,... ORPHA:564
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Clinodactyly of the 5th finger, Microphthalmia ORPHA:2399
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Microphthalmia, Short palm, Long fingers OMIM:616734
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Foot polydactyly, Aplasia/Hy... ORPHA:3186
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Joubert Syndrome 17
Polydactyly, Syndactyly OMIM:614615
Mullegama-Klein-Martinez Syndrome
Polydactyly, Clinodactyly of the 5th finger OMIM:301022
Heart And Brain Malformation Syndrome
Hand clenching, Camptodactyly of finger, Microphthalmia, Polyhydramnios OMIM:616920
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos, Broad proximal phalanges of the hand, Short foot OMIM:607597
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Microphthalmia, Postax... ORPHA:404440
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of tibia morphology, Toe syndactyly, Abnormality of the ulna... ORPHA:251014
Refsum Disease
Hammertoe, Abnormality of epiphysis morphology, Microphthalmia, Short metacarpal ORPHA:773
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Postaxial polydactyly, Hydrocephalus, Peau d'orange OMIM:614576
Hydrolethalus Syndrome 1
Polyhydramnios, Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, St... OMIM:236680
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Oculodentodigital Dysplasia, Autosomal Recessive
4-5 finger syndactyly, Broad long bones, 2-4 toe cutaneous syndactyly, Small hand, Microphthalmia... OMIM:257850
Marden-Walker Syndrome
Radioulnar synostosis, Camptodactyly, Microphthalmia, Joint contracture of the hand, Talipes equi... OMIM:248700
Cohen Syndrome
Genu valgum, Cubitus valgus, Finger syndactyly, Narrow palm, Sandal gap, Slender toe, Abnormal hi... ORPHA:193
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia ORPHA:1942
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Joubert Syndrome 7
Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Suleiman-El-Hattab Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Single transverse palmar crease OMIM:618950
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Preaxial hand polydactyly, Broad thumb, Overlapping toe, 2-3 toe syndactyly, Broad ... ORPHA:508498
Stromme Syndrome
Stillbirth, Preaxial polydactyly, Optic nerve hypoplasia, Microphthalmia, Hydrocephalus OMIM:243605
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Overlapping toe, Finger syndactyly, 2-3 toe syndactyly, Deviation of the 2nd... ORPHA:464738
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia, Hydrocephalus ORPHA:370959
Galloway-Mowat Syndrome 3
Oligohydramnios, Camptodactyly, Edema, Microphthalmia, Hip dislocation, Arachnodactyly OMIM:617729
Joubert Syndrome 2
Microphthalmia, Postaxial hand polydactyly, Hydrocephalus OMIM:608091
3Q29 Microduplication Syndrome
Aniridia, Toe syndactyly, Camptodactyly of toe, Sandal gap, Microphthalmia ORPHA:251038
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Short sternum, Postaxial polydactyly, Clinodactyly,... OMIM:311900
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Bilateral microphthalmos, Umbilical hernia, Clinodactyly, Syndactyly, Abnormality ... ORPHA:369891
Joubert Syndrome 32
Postaxial polydactyly OMIM:617757
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Mend Syndrome
Overlapping fingers, Hand polydactyly, Overlapping toe, 2-3 toe syndactyly, Microphthalmia, Broad... ORPHA:401973
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Oligohydramnios ORPHA:228390
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Baraitser-Winter Syndrome 1
Duplication of phalanx of hallux, Microphthalmia OMIM:243310
Fanconi Anemia, Complementation Group F
Polyhydramnios, 2-3 finger syndactyly, Hypoplasia of the radius, Microphthalmia, Short thumb, Abs... OMIM:603467
Walker-Warburg Syndrome
Microphthalmia, Metatarsus valgus, Hydrocephalus, Anophthalmia ORPHA:899
Meckel Syndrome, Type 1
Postaxial hand polydactyly, Oligohydramnios, Large placenta, Bowing of the long bones, Anencephal... OMIM:249000
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Spina bifida, Abnormality of femur morphology, Azoospermia, Toe sy... ORPHA:84
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Buphthalmos, Hydrocephalus OMIM:616538
Orofaciodigital Syndrome I
Polydactyly, Brachydactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Myelomeningocel... OMIM:311200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Polyhydramnios, Postaxial hand polydactyly, Holoprosencephaly, Umbilical hernia, Microphthalmia, ... ORPHA:2166
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Monosomy 13Q14
Finger syndactyly, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Microphthalmia, Clinodacty... ORPHA:1587
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Nance-Horan Syndrome
Broad finger, Short phalanx of finger, Microphthalmia OMIM:302350
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Focal Dermal Hypoplasia
Aniridia, Short metatarsal, Congenital hip dislocation, Short phalanx of finger, Split hand, Midc... OMIM:305600
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Cardioacrofacial Dysplasia 1
Genu valgum, Postaxial polydactyly, Limb undergrowth OMIM:619142
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Microphthalmia OMIM:618652
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Hypoplastic pelvis, Rhizomelia, Preaxial polydactyly, Postaxial polydactyly,... OMIM:616300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Preaxial hand polydactyly, Partial duplication of thumb phalanx, A... OMIM:227646
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Microphthalmia, Anophthalmia OMIM:615877
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Short long bone, Neonatal de... OMIM:617925
Teebi-Shaltout Syndrome
Rocker bottom foot, Camptodactyly, Ulnar deviation of the hand, Metatarsus adductus, Syndactyly, ... OMIM:272950
Papillorenal Syndrome
Edema, Microphthalmia OMIM:120330
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia OMIM:614222
Monosomy 9Q22.3
Polydactyly, Palmar pits, Umbilical hernia, Microphthalmia, Hydrocephalus ORPHA:77301
Rere-Related Neurodevelopmental Syndrome
Hip dysplasia, Microphthalmia ORPHA:494344
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Cone-shaped epiphysis, Postaxial polydactyly, Rhizomel... ORPHA:397715
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Hallermann-Streiff Syndrome
Spina bifida, Slender long bone, Microphthalmia, Metaphyseal widening, Abnormality of the hand OMIM:234100
Frontorhiny
Camptodactyly of finger, Brachydactyly, Microphthalmia, Finger clinodactyly ORPHA:391474
Fryns Syndrome
Polyhydramnios, Rocker bottom foot, Stillbirth, Arrhinencephaly, Camptodactyly, Short distal phal... OMIM:229850
Congenital Fibrinogen Deficiency
Clubbing of fingers, Microphthalmia ORPHA:335
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Finger syndactyly, Abnormality of the metacarpal bones, Microphthalmia, ... ORPHA:284160
Pseudoaminopterin Syndrome
Clubbing of fingers, Short 4th metacarpal, Hip subluxation, Overlapping toe, Synostosis of carpal... ORPHA:221120
Galloway-Mowat Syndrome 1
Oligohydramnios, Camptodactyly, Hypoplasia of the iris, Slender finger, Microphthalmia, Joint con... OMIM:251300
Jacobsen Syndrome
Holoprosencephaly, Macular hypoplasia, Microphthalmia, Clinodactyly of the 5th finger, Brachydact... OMIM:147791
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Holoprosencephaly, Increased nuchal translucency, Microphthalmia, Ascites, Clinod... ORPHA:1052
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Adducted thumb, Optic nerve hypoplasia, Hydrocephalus OMIM:614643
Myhre Syndrome
Overlapping toe, Camptodactyly, 2-3 toe syndactyly, Hypoplastic iliac wing, Cone-shaped epiphysis... OMIM:139210
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Nephronophthisis 13
Polydactyly OMIM:614377
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Orofaciodigital Syndrome Type 6
Hand polydactyly, Central Y-shaped metacarpal, Mesoaxial polydactyly, Finger clinodactyly, Preaxi... ORPHA:2754
Oculodentodigital Dysplasia
Cubitus valgus, 3-4 toe syndactyly, 4-5 finger syndactyly, Joint contracture of the 5th finger, C... OMIM:164200
9Q21.13 Microdeletion Syndrome
Polydactyly, Hip dysplasia ORPHA:531151
Warburg Micro Syndrome 2
Microphthalmia, Overlapping toe OMIM:614225
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligohydramnios, Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx o... ORPHA:364577
Holoprosencephaly
Hand polydactyly, Branchial anomaly, Holoprosencephaly, Spinal dysraphism, Microphthalmia, Anopht... ORPHA:2162
Incontinentia Pigmenti
Absent hand, Camptodactyly of finger, Finger syndactyly, Umbilical hernia, Abnormal hand morpholo... ORPHA:464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Broad thumb, Bilateral single transverse palmar creases, Microphthalmia,... ORPHA:1236
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Deep palmar crease, Polydactyly, Camptodactyly, Joint contracture of the hand, Cl... OMIM:247200
Adnp Syndrome
Abnormality of toe, Broad thumb, Abnormality of finger, Polydactyly, 2-3 toe syndactyly, Umbilica... ORPHA:404448
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Long fingers OMIM:156610
Fanconi Anemia, Complementation Group E
Absent radius, Microphthalmia, Short thumb, Absent thumb, Complete duplication of thumb phalanx OMIM:600901
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Overlapping toe OMIM:618571
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Fanconi Anemia, Complementation Group A
Absent radius, Microphthalmia, Short thumb, Absent thumb, Complete duplication of thumb phalanx OMIM:227650
Bartsocas-Papas Syndrome 1
Oligodactyly, Talipes equinovarus, Short phalanx of finger, Hypoplastic scapulae, Hypoplastic ili... OMIM:263650
Pallister-Hall Syndrome
Broad thumb, 3-4 finger cutaneous syndactyly, Supernumerary metacarpal bones, Postaxial hand poly... ORPHA:672
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Postaxial polydactyly, Broad hallux, Optic nerve hypoplasia, Clinodactyly of the 5... ORPHA:457284
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Tapered finger, Microphthalmia ORPHA:65286
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Rodrigues Blindness
Microphthalmia OMIM:268320
Holoprosencephaly 9
Postaxial hand polydactyly, Holoprosencephaly, Optic nerve hypoplasia, Microphthalmia, Anophthalm... OMIM:610829
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Microphthalmia, Lenz Type
Camptodactyly of finger, Finger syndactyly, Microphthalmia, Abnormal shoulder morphology, Complet... ORPHA:568
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Palmoplantar hyperhidrosis, Postaxial polydactyly, Edema, Single transverse p... OMIM:617527
Fryns Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Microphthalmia, Short distal phalanx of finger ORPHA:2059
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Witteveen-Kolk Syndrome
Polyhydramnios, Toe syndactyly, Abnormality of finger, Abnormal thumb morphology, Radial deviatio... OMIM:613406
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Microphthalmia ORPHA:2728
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Holoprosencephaly, Hydrocephalus OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos, Hydrocephalus OMIM:613150
Momo Syndrome
Short sternum, Large hands, Bilateral microphthalmos, Congenital pseudoarthrosis of the clavicle,... ORPHA:2563
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hip dysplasia, Postaxial polydactyly, Small hand, Short foot, Hip dislocation, Tapered finger OMIM:300968
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cranioectodermal Dysplasia 2
Polyhydramnios, Postaxial hand polydactyly, Hydrops fetalis, Polydactyly, Rhizomelia, Mesomelia, ... OMIM:613610
Fanconi Anemia, Complementation Group C
Absent radius, Microphthalmia, Short thumb, Absent thumb, Complete duplication of thumb phalanx OMIM:227645
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Forearm reduction defects, Small hand, Microphthalmia, Short thumb, S... OMIM:268400
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Acrofrontofacionasal Dysostosis 1
Broad thumb, Short distal phalanx of finger, Acetabular dysplasia, Microphthalmia, Short metacarpal OMIM:201180
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Cat Eye Syndrome
Absent radius, Microphthalmia OMIM:115470
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Meier-Gorlin Syndrome 7
Preaxial polydactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowing of the legs, ... OMIM:617063
22Q11.2 Deletion Syndrome
Polyhydramnios, Spina bifida, Hand polydactyly, Arrhinencephaly, Umbilical hernia, Meningocele, F... ORPHA:567
Tarp Syndrome
Rocker bottom foot, Hand polydactyly, Finger syndactyly, Short sternum, Postaxial polydactyly, Cl... ORPHA:2886
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Oligohydramnios, Polydactyly, Acromesomelia, Clinodactyly of the 5th finger, Hall... ORPHA:464306
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Stillbirth, Abnormality of the metacarpal bones, Radial deviation of finger, Clin... OMIM:268300
Hemifacial Microsomia
Microphthalmia, Hydrocephalus, Branchial anomaly, Anophthalmia OMIM:164210
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Microphthalmia, Syndromic 2
Radioulnar synostosis, 2-3 toe syndactyly, Umbilical hernia, Sandal gap, 2-3 toe cutaneous syndac... OMIM:300166
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Dubowitz Syndrome
Hypoplasia of the iris, Clinodactyly of the 5th finger, Syndactyly, Microphthalmia OMIM:223370
Cranioectodermal Dysplasia 3
Syndactyly, Brachydactyly, Postaxial polydactyly, Sandal gap OMIM:614099
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Pulmonary edema, Hydrocephalus ORPHA:137675
Cockayne Syndrome B
Square pelvis bone, Normal pressure hydrocephalus, Hypoplastic pelvis, Hypoplastic iliac wing, Hy... OMIM:133540
Oculo-Palato-Cerebral Syndrome
Small hand, Microphthalmia, Short foot ORPHA:2714
Charge Syndrome
Polyhydramnios, Abnormality of tibia morphology, Holoprosencephaly, Aqueductal stenosis, Micropht... ORPHA:138
Aicardi Syndrome
Spina bifida, Microphthalmia, Proximal placement of thumb OMIM:304050
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Buphthalmos, Optic nerve hypoplasia, Hydrocephalus OMIM:236670
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Micro Syndrome
Microphthalmia ORPHA:2510
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Pleural effusion, Anophthalmia, Edema, Microphthalmia, Chylothorax ORPHA:2526
Fontaine Progeroid Syndrome
Deep palmar crease, Oligohydramnios, Umbilical hernia, Short distal phalanx of finger, Neonatal d... OMIM:612289
Khan-Khan-Katsanis Syndrome
Buphthalmos, Clinodactyly, Postaxial polydactyly OMIM:618460
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Phthisis bulbi, Microphthalmia OMIM:259770
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Dislocated radial head, Broad thumb, Flared iliac wing, Polydactyly, Duplication ... OMIM:180849
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Charge Syndrome
Abnormal palmar dermatoglyphics, Hand polydactyly, Holoprosencephaly, Arrhinencephaly, Down-slopi... OMIM:214800
Holoprosencephaly 7
Semilobar holoprosencephaly, Bilateral microphthalmos, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Simpson-Golabi-Behmel Syndrome, Type 1
2-3 finger syndactyly, Postaxial hand polydactyly, Broad thumb, Two carpal ossification centers p... OMIM:312870
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Finger clinodactyly, Microphthalmia,... ORPHA:306542
Choanal Atresia
Polydactyly ORPHA:137914
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Polyd... OMIM:607932
Townes-Brocks Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Broad hallux phalanx, Partial duplication... ORPHA:857
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hip dysplasia, Branchial anomaly, Postaxial polydactyly, Increased nuchal translucency, Optic ner... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hip dysplasia, Branchial anomaly, Postaxial polydactyly, Increased nuchal translucency, Optic ner... ORPHA:352665
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, 4-5 finger syndactyly, 2-5 finger syndactyly, Bilateral microphthalmos, ... ORPHA:468631
Hallermann-Streiff Syndrome
Small hand, Clinodactyly of the 5th finger, Microphthalmia, Short foot ORPHA:2108
Monosomy 9P
Postaxial hand polydactyly, Abnormality of the tarsal bones, Bilateral single transverse palmar c... ORPHA:261112
Kinsship Syndrome
Dislocated radial head, Polydactyly, Mesomelia, Fibular hypoplasia, Hip dislocation, Single trans... OMIM:619297
Carpenter Syndrome 2
Broad thumb, Camptodactyly, Preaxial polydactyly, Postaxial polydactyly, Umbilical hernia, Aplasi... OMIM:614976
Vater/Vacterl Association
Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Preaxial polydactyly, Absent radiu... OMIM:192350
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Microphthalmia, Thickened cortex of long b... OMIM:127000
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Hypoplastic pelvis OMIM:273395
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Genu valgum, Azoospermia, Joint swelling, Abnormality of epiphysis morphology, Umbil... ORPHA:534
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus OMIM:309801
3Mc Syndrome 3
Clinodactyly, Preaxial polydactyly, Radioulnar synostosis OMIM:248340
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hip dysplasia, Clinodactyly of the 5th finger, Syndactyly, Microphthalmia OMIM:616975
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Oligohydramnios, Polydactyly, 2-4 toe cutaneous syndactyly, Tapered finger, Short 5th toe, Abnorm... ORPHA:268261
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Holoprosencephaly 2
Holoprosencephaly, Microphthalmia OMIM:157170
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Wide pubic symphysis, Microphthalmia, Anopht... ORPHA:2052
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Loeys-Dietz Syndrome 2
Protrusio acetabuli, Camptodactyly, Postaxial polydactyly, Umbilical hernia, Syndactyly, Joint co... OMIM:610168
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Abnormal mitochondrial shape, Short femur, Short humerus ORPHA:17
Rabson-Mendenhall Syndrome
Polydactyly ORPHA:769
Fraser Syndrome 1
Bilateral microphthalmos, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the phalanges of the... OMIM:219000
Trichothiodystrophy
Clubbing, Bilateral microphthalmos, Umbilical hernia ORPHA:33364
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Holoprosencephaly, Optic nerve hypoplasia, Septo-optic dysplasia, Abnormal digit mor... ORPHA:95494
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, 2-3 finger syndactyly, Hypoplasia of the radius, Absent proximal phalanx o... OMIM:149730
Aicardi Syndrome
Hip dysplasia, Small hand, Microphthalmia ORPHA:50
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia, Hydrocephalus OMIM:253280
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Okamoto Syndrome
Polydactyly, Hip dysplasia, Abnormally large globe, Oligohydramnios ORPHA:2729
Treacher-Collins Syndrome
Branchial fistula, Microphthalmia ORPHA:861
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hip dysplasia, Broad distal phalanx of finger, Polyhydramnios, Deviation of the hallux, Broad thu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hip dysplasia, Broad distal phalanx of finger, Polyhydramnios, Deviation of the hallux, Broad thu... ORPHA:353277
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Branchiooculofacial Syndrome
Preaxial hand polydactyly, Branchial anomaly, Clinodactyly of the 5th finger, Microphthalmia, Sho... OMIM:113620
Adams-Oliver Syndrome 1
Toe syndactyly, Talipes equinovarus, Brachydactyly, Microphthalmia OMIM:100300
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:2556
8Q24.3 Microdeletion Syndrome
Hip dysplasia, Short hallux, Short 5th finger, Rocker bottom foot, Short femur, Congenital hip di... ORPHA:508488
Renpenning Syndrome 1
Camptodactyly, Microphthalmia, Joint contracture of the hand, Synostosis of the proximal phalanx ... OMIM:309500
Faciocardiomelic Syndrome
Polydactyly, Slender long bone, Hypoplastic pelvis OMIM:612731
Isolated Arrhinia
Microphthalmia ORPHA:1134
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of the long bones, B... ORPHA:93325
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Lowe Oculocerebrorenal Syndrome
Genu valgum, Camptodactyly of finger, Finger swelling, Microphthalmia, Joint contracture of the h... OMIM:309000
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Cockayne Syndrome
Microphthalmia, Abnormality of epiphysis morphology ORPHA:191
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Holoprosencephaly 1
Microphthalmia, Alobar holoprosencephaly, Ethmocephaly OMIM:236100
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hip dysplasia, Congenital hip dislocation, Overlapping toe, Curved fingers, Postaxial polydactyly... ORPHA:480880
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Preaxial polydactyly, Postaxial polydactyly OMIM:615948
Microphthalmia, Syndromic 1
Abnormal palmar dermatoglyphics, Camptodactyly, Down-sloping shoulders, Radial deviation of finge... OMIM:309800
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Genu valgum, Camptodactyly, Adducted thumb, Broad hallux, Ulnar deviation of the hand, Syndactyly... ORPHA:261537
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Genu valgum, Camptodactyly, Adducted thumb, Broad hallux, Ulnar deviation of the hand, Syndactyly... ORPHA:261552
Mowat-Wilson Syndrome
Genu valgum, Camptodactyly, Broad hallux, Ulnar deviation of the hand, Syndactyly, Long toe, Micr... ORPHA:2152
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Senior-Loken Syndrome
Cone-shaped epiphysis ORPHA:3156

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 Traf3ip1

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 Traf3ip1.

No publications found that use IMPC mice or data for Traf3ip1.

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MGI Allele Allele Type Produced
Traf3ip1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Traf3ip1em1(IMPC)Bay Exon Deletion Mice

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