banner
Genes Phenotypes Help, News, Blog

Gene: Traf3ip1 MGI:1921269

Log in to follow

Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
abnormal pericardium morphology Traf3ip1em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Traf3ip1em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Traf3ip1em1(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Traf3ip1em1(IMPC)Bay HOM E9.5 0.00
edema Traf3ip1em1(IMPC)Bay HOM E9.5 0.00
increased cornea thickness Traf3ip1em1(IMPC)Bay HET   Early adult 2.71×10-05
embryonic lethality prior to tooth bud stage Traf3ip1em1(IMPC)Bay HOM   E12.5 0.00
abnormal somite shape Traf3ip1em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Traf3ip1em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Traf3ip1em1(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

VIP of left eye

12 Images

View images
Download thumbnail Download
MicroCT E9.5

Embryo reconstruction

6 Images

View images
Eye Morphology

VIP of left fundus

12 Images

View images
Eye Morphology

VIP of right eye

12 Images

View images
Eye Morphology

VIP of right fundus

12 Images

View images

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
Cataract ORPHA:3156

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Edema OMIM:616570
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb, Cryptorchidism ORPHA:3434
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... OMIM:613885
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Genu v... ORPHA:65759
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Hartsfield Syndrome
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia ORPHA:2117
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Rad... OMIM:136760
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Unilateral cryptorchid... OMIM:206920
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus ORPHA:324416
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Syndactyly, Hydrocephalus, Polydactyly OMIM:602501
Bardet-Biedl Syndrome 4
Cryptorchidism, Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Polyhydramnios ORPHA:3469
Nanophthalmos
Microphthalmia ORPHA:35612
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Hy... OMIM:611134
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Microphthalmia OMIM:164180
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos 4
Microphthalmia OMIM:615972
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Hydrolethalus
Anophthalmia, Micromelia, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Hydrocephal... ORPHA:2189
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Moebius Syndrome
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta... OMIM:157900
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Pierpont Syndrome
Cryptorchidism, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, ... OMIM:602342
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Toe syndactyly, Polyhydramnios ORPHA:261272
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios, Camptodactyly of finger, Symphalangism affecting the phalanges of... ORPHA:2547
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Pierpont Syndrome
Cryptorchidism, Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphtha... ORPHA:487825
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia, Cryptorchidism OMIM:615524
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ... OMIM:607131
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Temtamy Syndrome
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly ORPHA:1777
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Postaxial polydactyly, Cryptorchidism, Short long bone, Brachydactyly OMIM:615633
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydac... OMIM:602361
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Neonatal death... ORPHA:85284
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus OMIM:617255
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Ascites ORPHA:858
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un... OMIM:251230
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes... OMIM:614815
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Cryptorchidism OMIM:601794
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... ORPHA:93267
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Talipes equinovarus OMIM:616171
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... ORPHA:2839
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Adams-Oliver Syndrome 2
Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ... OMIM:614219
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... OMIM:619879
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness ORPHA:90354
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... OMIM:601707
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Cofs Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:1466
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... ORPHA:974
Microphthalmia, Syndromic 8
Microphthalmia, Split foot, Cryptorchidism OMIM:601349
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... OMIM:618914
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Coxa valga, Cryptorchidism, Elbow flexion contracture, Dehydration, Second me... OMIM:214150
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Monosomy 18P
Lymphedema, Microphthalmia, Holoprosencephaly, Brachydactyly ORPHA:1598
Warburg Micro Syndrome 1
Microphthalmia, Overlapping toe, Cryptorchidism OMIM:600118
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly OMIM:619694
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals OMIM:615996
Nephronophthisis 15
Polydactyly OMIM:614845
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodac... ORPHA:397590
Mosaic Trisomy 1
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... ORPHA:1692
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus OMIM:613155
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... OMIM:607323
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Polydactyly, Hypoplastic ischia OMIM:616910
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... ORPHA:139471
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... ORPHA:2788
Trisomy 13
Anophthalmia, Cryptorchidism, Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of ... ORPHA:3378
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... ORPHA:163649
Bartsocas-Papas Syndrome 2
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand OMIM:619339
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... OMIM:607597
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb OMIM:617244
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... OMIM:258860
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Cryptorchidism, Increased nuchal translucency, Hip dysplasia, Prominent fingerti... OMIM:618494
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly OMIM:619981
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... OMIM:610758
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Edema, Hydrocephalus, Polydactyly, Umbilical hernia, Ascites ORPHA:93400
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Cryptorchidism OMIM:613730
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:48431
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Oculofaciocardiodental Syndrome
Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2... ORPHA:2712
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger OMIM:616362
Pelger-Huet Anomaly
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal... OMIM:169400
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Sandal gap OMIM:300887
Frontorhiny
Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum... ORPHA:391474
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Complete duplication of thu... ORPHA:59315
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... OMIM:277170
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Oligohydramnios, Cryptorchidism ORPHA:228390
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Hand polydactyly... ORPHA:250989
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Microphthalmia OMIM:614424
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Clinodactyly of the... ORPHA:3103
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Cry... OMIM:619148
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... OMIM:302960
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... OMIM:615503
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Ring Chromosome 10 Syndrome
Microphthalmia, Sandal gap, Tapered finger ORPHA:1438
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial p... OMIM:616300
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Spina bifida, Cryptor... ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus OMIM:613153
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... OMIM:618142
Martsolf Syndrome 1
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... OMIM:212720
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Microphthalmia ORPHA:77298
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... OMIM:619721
Joubert Syndrome 37
Microphthalmia, Decreased testicular size, Postaxial polydactyly, Cryptorchidism OMIM:619185
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Joubert Syndrome 23
Polydactyly OMIM:616490
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, H... ORPHA:3412
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Postaxial polydactyly, Abnormally large globe OMIM:603387
Temtamy Syndrome
Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly OMIM:218340
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Pos... OMIM:264480
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Tapered finger, Cryptorchidism, Macular hypoplasia OMIM:613792
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dist... ORPHA:404440
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Bilateral single transverse palm... OMIM:618804
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Cryptorchidism, Ulnar bowing, Shortening of all distal phalanges of the f... OMIM:619135
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... OMIM:616843
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Polyhydramnios, Hydrocephalus, Preaxial pol... OMIM:616546
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... ORPHA:90652
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Polyhydramnios, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia involvin... ORPHA:3301
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Single transverse palmar crease, Oligohydramnios OMIM:619053
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology ORPHA:290
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Brachydactyly OMIM:618950
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Polyhydramnios, Postaxial polydactyly OMIM:219730
Neu-Laxova Syndrome 1
Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Finger syndactyly, Spina bi... OMIM:256520
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin... ORPHA:2092
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... ORPHA:564
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot OMIM:610756
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cryptorchidism, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Holoprosencepha... OMIM:612530
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Joubert Syndrome 27
Polydactyly OMIM:617120
Kapur-Toriello Syndrome
Single transverse palmar crease, Camptodactyly of finger, Short thumb, Cryptorchidism, Microphtha... OMIM:244300
Trisomy 18
Camptodactyly of finger, Spina bifida, Cryptorchidism, Postaxial hand polydactyly, Anencephaly, O... ORPHA:3380
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Cryptorchidism, Upper limb asymmetry, Umbilical hernia, Microphthalmia ORPHA:2505
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia ORPHA:370959
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial... OMIM:603671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones ORPHA:3191
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb OMIM:617883
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... OMIM:617895
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:147250
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... ORPHA:1352
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Stevenson-Carey Syndrome
Microphthalmia, Hip dysplasia, Joint contracture of the hand, Camptodactyly OMIM:611961
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hydrops fetalis, Foot polydactyly, Short palm, Microphthalmia ORPHA:268249
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Broad hallux, Single transverse palmar crease OMIM:614105
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Cryptorchidism, Bilateral microphthalmos, Camptodactyly, Umb... ORPHA:369891
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Polyhydramnios, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Umbilic... ORPHA:2166
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Abnormality of the palmar creases OMIM:618652
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly OMIM:618727
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Hip dysplasia, Hydrocephalus, Postaxial polydactyly OMIM:614576
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Cryptorchidism, Narrow palm, Slend... ORPHA:193
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn... ORPHA:3472
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cryptorchidism ORPHA:363741
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Heart And Brain Malformation Syndrome
Hand clenching, Microphthalmia, Camptodactyly of finger, Polyhydramnios OMIM:616920
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... OMIM:184705
Marden-Walker Syndrome
Arachnodactyly, Cryptorchidism, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microp... OMIM:248700
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... OMIM:609053
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... OMIM:257850
Stromme Syndrome
Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Microphthalmia OMIM:243605
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly, Oligohydramnios OMIM:615824
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Joubert Syndrome 2
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, Microphthalmia OMIM:608091
Fanconi Anemia, Complementation Group F
Polyhydramnios, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger s... OMIM:603467
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o... ORPHA:3186
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 toe syndactyly, H... ORPHA:401973
Refsum Disease
Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe ORPHA:773
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Hydrocephalus, Metatarsus valgus, Microphthalmia ORPHA:899
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,... ORPHA:464738
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypoplasia, Spina bifida, Pre... ORPHA:508498
Baraitser-Winter Syndrome 1
Microphthalmia, Duplication of phalanx of hallux, Cryptorchidism OMIM:243310
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Cryptorchidism, Hydrocephalus, 2-3 toe syndactyly, P... OMIM:300960
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers, Decreased testicular size ORPHA:335
Hydrolethalus Syndrome 1
Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ... OMIM:236680
Warburg Micro Syndrome 2
Overlapping toe, Cryptorchidism, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the... OMIM:614225
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... OMIM:249000
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Corneal... OMIM:601812
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Small hand, Short foot, Short palm, Microphthalmia OMIM:241410
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S... ORPHA:2538
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal shoulder morphology, Clinoda... ORPHA:568
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia ORPHA:251038
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hip dysplasia, Cryptorchidism ORPHA:494344
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb OMIM:614643
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Fanconi Anemia
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly... ORPHA:84
Nance-Horan Syndrome
Microphthalmia, Short phalanx of finger, Broad finger OMIM:302350
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine... OMIM:620098
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Galloway-Mowat Syndrome 3
Arachnodactyly, Edema, Hip dislocation, Camptodactyly, Microphthalmia, Oligohydramnios OMIM:617729
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpal, Preaxia... ORPHA:2754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Hip dysplasia, Polydactyly ORPHA:531151
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... OMIM:227646
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... ORPHA:1587
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... OMIM:272950
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal metacarpal morphology, Micro... ORPHA:284160
Warburg-Cinotti Syndrome
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness OMIM:618175
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Short thumb, Cryptorchidism, Hip dysplasia, Microph... OMIM:300895
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia, Decreased testicular size OMIM:614222
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Monosomy 9Q22.3
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Microphthalmia ORPHA:77301
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda... OMIM:605627
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia, Encephalocele, Oligohydramnios OMIM:613451
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cryptorchidism, Camptodactyly, Microphthalmia, Absent palmar crease OMIM:614230
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Cryptorchidism OMIM:613001
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... ORPHA:35173
Costello Syndrome
Keratoconus ORPHA:3071
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microphthalmia, Joint... OMIM:251300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus OMIM:613150
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... OMIM:617925
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Clinodactyly of the 5th fin... OMIM:147791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Polyhydramnios, Cryptorchidism, Deep palmar crease, Polydactyly,... OMIM:247200
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism OMIM:610125
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... ORPHA:464
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalmia, Complete duplication of... OMIM:600901
Holoprosencephaly
Encephalocele, Anophthalmia, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Branchial anomaly,... ORPHA:2162
Myhre Syndrome
Overlapping toe, Pericardial effusion, Cryptorchidism, Short toe, 2-3 toe syndactyly, Cone-shaped... OMIM:139210
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis... ORPHA:404448
Warburg Micro Syndrome 4
Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:615663
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... ORPHA:364577
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Cryptorchidism, Hip dislocation, Umbilical hern... OMIM:613884
Orofaciodigital Syndrome I
Syndactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polydactyly, Radial deviation of fing... OMIM:311200
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly OMIM:616449
Gapo Syndrome
Keratoconus ORPHA:2067
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum... ORPHA:306542
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Increased nuchal translucency, Abnormality of the upper limb, Holoprosencephaly, ... ORPHA:1052
Fryns Syndrome
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Polyhydramnios,... OMIM:229850
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalmia, Complete duplication of... OMIM:227650
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... OMIM:617527
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia OMIM:616395
Pallister-Hall Syndrome
Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Umbilical hernia, Polyda... ORPHA:672
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, ... OMIM:610829
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Overlapping toe OMIM:618571
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse... ORPHA:1236
Fryns Syndrome
Polyhydramnios, Cryptorchidism, Clinodactyly of the 5th finger, Microphthalmia, Short distal phal... ORPHA:2059
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Polyhydramnios, Bilateral cryptorchidism, Hypoplastic iliac wing... OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cryptorchidism, Meningoencephalocele, Hydrocepha... OMIM:236670
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Abnormal palmar dermatoglyphics, Cryptorchidism ORPHA:2728
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Rodrigues Blindness
Microphthalmia OMIM:268320
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of... OMIM:268300
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2470
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod... ORPHA:457284
Hallermann-Streiff Syndrome
Spina bifida, Abnormality of the hand, Cryptorchidism, Metaphyseal widening, Slender long bone, M... OMIM:234100
Oculodentodigital Dysplasia
4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx... OMIM:164200
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar holoprosencephaly, Holop... OMIM:610828
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Tapered finger ORPHA:65286
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:174300
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Microphthalmia OMIM:614083
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr... ORPHA:2886
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Long fingers OMIM:156610
Fanconi Anemia, Complementation Group C
Absent thumb, Absent radius, Short thumb, Cryptorchidism, Microphthalmia, Complete duplication of... OMIM:227645
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger OMIM:201180
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Cryptorchidism, Polydactyly, Acromesomelia, Clinod... ORPHA:464306
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Short thumb, Cryptorchidism, Small hand, Short foot, Talipes equinova... OMIM:268400
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia OMIM:300968
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Microphthalmia, Syndromic 2
Anophthalmia, Broad hallux, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndactyly, Phthisis bu... OMIM:300166
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... OMIM:609049
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Cryptorchidism, Lipomyelomeningocele, Deep pa... OMIM:616580
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis ... ORPHA:2563
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Unilateral microphthalmos, Adducted thumb OMIM:618874
22Q11.2 Deletion Syndrome
Arachnodactyly, Spina bifida, Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Occipit... ORPHA:567
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh... OMIM:608670
Carpenter Syndrome 2
Short digit, Single transverse palmar crease, Postaxial polydactyly, Bilateral cryptorchidism, Cr... OMIM:614976
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Polyhydramnios, Postaxial hand polydactyly, Hydrops fetalis, Polydactyly,... OMIM:613610
Micro Syndrome
Microphthalmia, Cryptorchidism ORPHA:2510
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Fraser Syndrome 2
Microphthalmia, Oligohydramnios, Cutaneous syndactyly OMIM:617666
Papillorenal Syndrome
Microphthalmia, Edema OMIM:120330
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... OMIM:619297
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Helsmoortel-Van Der Aa Syndrome
Broad hallux, Sandal gap, Tapered finger, Cryptorchidism, Small hand, Genu valgum, Polydactyly, C... OMIM:615873
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Congenital aphakia, Pulmonary edema ORPHA:137675
Oculo-Palato-Cerebral Syndrome
Short foot, Microphthalmia, Small hand ORPHA:2714
Dubowitz Syndrome
Syndactyly, Single transverse palmar crease, Cryptorchidism, Hypoplasia of the iris, Clinodactyly... OMIM:223370
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Cryptorchidism OMIM:248340
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
8Q24.3 Microdeletion Syndrome
Long toe, Branchial cyst, Congenital hip dislocation, Short femur, Single transverse palmar creas... ORPHA:508488
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia OMIM:601552
Witteveen-Kolk Syndrome
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... OMIM:613406
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
Choanal Atresia
Polydactyly ORPHA:137914
Charge Syndrome
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Abnormal tibia morphology, Bif... ORPHA:138
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Brachydactyly OMIM:100300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Long fingers, Cryptorchidism, 2-3 toe syndactyly, Short palm, Clinodactyly of the... OMIM:616734
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Atelis Syndrome 2
Microphthalmia, Clinodactyly, Single transverse palmar crease OMIM:620185
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Cockayne Syndrome B
Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelv... OMIM:133540
Cat Eye Syndrome
Absent radius, Microphthalmia, Umbilical hernia OMIM:115470
Fontaine Progeroid Syndrome
Syndactyly, Cryptorchidism, Hydrocephalus, Oligohydramnios, Deep palmar crease, Absent distal pha... OMIM:612289
Aicardi Syndrome
Microphthalmia, Spina bifida, Proximal placement of thumb OMIM:304050
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postaxial hand poly... ORPHA:261112
Charge Syndrome
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Po... OMIM:214800
Degcags Syndrome
Syndactyly, Toe syndactyly, Polyhydramnios, Short thumb, Preaxial hand polydactyly, Cryptorchidis... OMIM:619488
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Cryptorchidism, 4-5 finge... ORPHA:468631
Hallermann-Streiff Syndrome
Cryptorchidism, Small hand, Short foot, Clinodactyly of the 5th finger, Microphthalmia ORPHA:2108
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Broad hallux, Single transverse palmar crease, Polyhydramnios, Hydrocele testis, ... OMIM:620186
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus OMIM:225400
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Hip dislocation, Dehydration, Genu valgum, Buphthalmos, Azoospermia, Joint swelli... ORPHA:534
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Postaxial polydactyly, Cryptorchidism, Increased nuchal translucency, Hip... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Postaxial polydactyly, Cryptorchidism, Increased nuchal translucency, Hip... ORPHA:352665
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Tapered finger, Abnormal toe morphology, Cryptorchidism, Polydactyly, 2-4 toe cuta... ORPHA:268261
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma... OMIM:612474
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Single transverse palmar crease OMIM:309801
Fraser Syndrome
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Cryptorchidism, Myelomeningocele,... ORPHA:2052
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Cone-shaped epiphysis, Short l... OMIM:617088
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly, Abnormal mitochondrial shape ORPHA:17
Culler-Jones Syndrome
Cryptorchidism, Postaxial polydactyly OMIM:615849
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia OMIM:206900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Tapered finger, Cryptorchidism, Small hand, Hip dysplasia, Microphthalmia OMIM:620005
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Cryptorchidism, Hip dysplasia, Clinodactyly of the 5th finger, Microphthalmia OMIM:616975
Simpson-Golabi-Behmel Syndrome, Type 1
Short palm, Broad toe, Postaxial polydactyly, Polyhydramnios, Cryptorchidism, Postaxial hand poly... OMIM:312870
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Cryptorchidism, Myelomeningocele, A... OMIM:219000
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Khan-Khan-Katsanis Syndrome
Buphthalmos, Clinodactyly, Postaxial polydactyly OMIM:618460
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Cryptorchidism, Branchial fistula ORPHA:861
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... OMIM:619539
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... OMIM:610168
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Hypoplastic pelvis OMIM:273395
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor... ORPHA:95494
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Polyhydramnios, Avascular necrosis of the capi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Polyhydramnios, Avascular necrosis of the capi... ORPHA:353277
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Microphthalmia, Syndromic 9
Neonatal death, Cryptorchidism, Anophthalmia, Bilateral microphthalmos OMIM:601186
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:2250
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Clubbing, Cryptorchidism ORPHA:33364
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Edema, Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Bro... OMIM:619534
Aicardi Syndrome
Microphthalmia, Hip dysplasia, Small hand ORPHA:50
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Rabson-Mendenhall Syndrome
Polydactyly ORPHA:769
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing OMIM:259770
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Bilateral microphth... ORPHA:93325
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Genu valgum, Finger swe... OMIM:309000
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Cryptorchidism, Postaxial hand polydactyly, Preaxial polyd... OMIM:615948
Okamoto Syndrome
Hip dysplasia, Polydactyly, Oligohydramnios, Abnormally large globe ORPHA:2729
Renpenning Syndrome 1
Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the proximal phalanx... OMIM:309500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus OMIM:253280
Holoprosencephaly 1
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia, Abnormal testis morphology ORPHA:2556
Proboscis Lateralis
Microphthalmia, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... OMIM:113620
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia ORPHA:137605
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis OMIM:612731
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Isolated Arrhinia
Microphthalmia ORPHA:1134
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly OMIM:301022
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... ORPHA:480880
Holoprosencephaly 2
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Cockayne Syndrome
Microphthalmia, Abnormal epiphysis morphology, Cryptorchidism ORPHA:191
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cryptorchidism OMIM:603457
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cryptorchidism... OMIM:309800
Neurocardiofaciodigital Syndrome
Syndactyly, Polydactyly OMIM:619869
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C... ORPHA:261537
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... OMIM:164210
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C... ORPHA:261552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Cryptorchidism ORPHA:649
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Microphthalmia, Cryptorchidism OMIM:235730
Senior-Loken Syndrome
Cataract 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.

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

Title Journal IMPC Allele PubMed ID
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease. Genes (November 2021) Traf3ip1em1(IMPC)Bay PMC8623546

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Traf3ip1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Traf3ip1em1(IMPC)Bay Exon Deletion Mice
Traf3ip1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter