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Gene: Tmem231 MGI:2685024

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transmembrane protein 231
Synonyms:
4932417I16Rik

Order Alleles

IMPC Data Collections

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

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.

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 Tmem231 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 Tmem231 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... ORPHA:564
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:2318
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum ORPHA:2752

The table below shows human diseases predicted to be associated to Tmem231 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
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
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb ORPHA:3434
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Rocker bottom foot OMIM:616570
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... ORPHA:65759
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Hartsfield Syndrome
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia ORPHA:2117
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Rad... OMIM:136760
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Nanophthalmos
Microphthalmia ORPHA:35612
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Syndactyly, Hydrocephalus, Polydactyly OMIM:602501
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus ORPHA:324416
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion... OMIM:206920
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Nanophthalmos 4
Microphthalmia OMIM:615972
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... OMIM:611134
Congenital Varicella Syndrome
Microphthalmia, Micromelia ORPHA:291
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Joubert Syndrome 22
Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly OMIM:615665
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation OMIM:164180
Septooptic Dysplasia
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger OMIM:182230
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Temtamy Syndrome
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly ORPHA:1777
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Moebius Syndrome
Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta... OMIM:157900
Microphthalmia, Syndromic 12
Neonatal death, Microphthalmia, Anophthalmia OMIM:615524
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Pierpont Syndrome
Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger... OMIM:602342
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Pierpont Syndrome
Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Excessive ... ORPHA:487825
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Talipes equinovarus OMIM:617255
Bresek Syndrome
Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Neonatal death, Microphthalmia ORPHA:85284
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes... OMIM:614815
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... ORPHA:93267
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
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
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Talipes equinovarus OMIM:616171
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... ORPHA:2839
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un... OMIM:251230
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... OMIM:601707
Cofs Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:1466
Hydrolethalus
Anophthalmia, Micromelia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Microphthalmia ORPHA:2189
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly OMIM:602361
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Nephronophthisis 15
Polydactyly OMIM:614845
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... OMIM:618914
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals OMIM:615996
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microphthalmia, Syndromic 8
Microphthalmia, Split foot OMIM:601349
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand ORPHA:2547
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Toe syndactyly ORPHA:261272
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus OMIM:613155
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly OMIM:607131
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb OMIM:617244
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus ORPHA:858
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Bartsocas-Papas Syndrome 2
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand OMIM:619339
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... OMIM:258860
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly OMIM:619981
Adams-Oliver Syndrome 2
Single transverse palmar crease, Hydrocephalus, Absent distal phalanges, Short middle phalanx of ... OMIM:614219
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... OMIM:607323
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
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
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Warburg Micro Syndrome 1
Microphthalmia, Overlapping toe OMIM:600118
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
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha... ORPHA:974
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ... OMIM:610758
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Short foo... OMIM:607597
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... ORPHA:139471
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Hydrocephalus, Polydactyly, Complete duplication of thu... ORPHA:59315
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... OMIM:619879
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:48431
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Oculofaciocardiodental Syndrome
Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2... ORPHA:2712
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia OMIM:613730
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger OMIM:616362
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Sandal gap OMIM:300887
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, ... OMIM:214150
Mosaic Trisomy 1
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott... ORPHA:1692
Joubert Syndrome 23
Polydactyly OMIM:616490
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Frontorhiny
Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum... ORPHA:391474
Ring Chromosome 10 Syndrome
Microphthalmia, Sandal gap, Tapered finger ORPHA:1438
Pelger-Huet Anomaly
Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal... OMIM:169400
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... OMIM:277170
Monosomy 18P
Microphthalmia, Holoprosencephaly, Brachydactyly ORPHA:1598
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... OMIM:618142
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly ORPHA:313781
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Foot polydacty... ORPHA:250989
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Postaxial polydactyly, Abnormally large globe OMIM:603387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus OMIM:613153
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Microphthalmia OMIM:614424
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... OMIM:619721
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat... OMIM:616300
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Temtamy Syndrome
Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly OMIM:218340
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyly of the 5th ... ORPHA:397590
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Ane... OMIM:619148
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Bilateral single transverse palm... OMIM:618804
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Trisomy 13
Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ... ORPHA:3378
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Martsolf Syndrome 1
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... OMIM:212720
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly ORPHA:77298
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot OMIM:610756
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology ORPHA:290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Pseudotrisomy 13 Syndrome
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Postaxial foot poly... OMIM:264480
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger... ORPHA:90652
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Joubert Syndrome 27
Polydactyly OMIM:617120
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse... OMIM:619135
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... ORPHA:404440
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia, Overlapping toe, Postaxial polydactyly, Tapered finger OMIM:613792
Joubert Syndrome 37
Microphthalmia, Postaxial polydactyly OMIM:619185
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
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:147250
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin... ORPHA:2092
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Hip dysplasia, Prominent fingertip pads, Overlapping fingers, Microphthalmia OMIM:618494
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones ORPHA:3191
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... OMIM:617895
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb OMIM:617883
Suleiman-El-Hattab Syndrome
Clinodactyly, Polydactyly, Single transverse palmar crease, Brachydactyly OMIM:618950
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Holoprosenceph... OMIM:184705
Stevenson-Carey Syndrome
Microphthalmia, Hip dysplasia, Joint contracture of the hand, Camptodactyly OMIM:611961
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly OMIM:618727
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, 3-4 finger cutaneous syndactyly, Holoprosencephaly, Talipes equinovarus, Microphthalmia OMIM:612530
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Kapur-Toriello Syndrome
Single transverse palmar crease, Camptodactyly of finger, Short thumb, Microphthalmia, Overlappin... OMIM:244300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Broad hallux, Single transverse palmar crease OMIM:614105
Stromme Syndrome
Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Microphthalmia OMIM:243605
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia ORPHA:370959
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyl... OMIM:603671
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... OMIM:609053
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o... ORPHA:3186
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... OMIM:257850
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val... ORPHA:193
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Umbilical hernia, Hydrocephalus, Polydactyly ORPHA:93400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, C... ORPHA:369891
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... OMIM:302960
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia ORPHA:228390
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis... ORPHA:3412
Refsum Disease
Microphthalmia, Abnormal epiphysis morphology, Short metacarpal, Hammertoe ORPHA:773
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Abnormality of the palmar creases OMIM:618652
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... ORPHA:564
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Marden-Walker Syndrome
Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Joint ... OMIM:248700
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,... ORPHA:464738
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Nance-Horan Syndrome
Microphthalmia, Short phalanx of finger, Broad finger OMIM:302350
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Spina bifida, Hip dis... ORPHA:99776
Trisomy 18
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, Deviation of fing... ORPHA:3380
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Micromelia, Spina bifida,... OMIM:256520
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S... ORPHA:2538
Joubert Syndrome 2
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, Microphthalmia OMIM:608091
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia ORPHA:251038
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Hydrocephalus ORPHA:3301
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,... ORPHA:401973
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
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Walker-Warburg Syndrome
Metatarsus valgus, Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:899
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... ORPHA:1587
Mend Syndrome
Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Macu... OMIM:300960
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Baraitser-Winter Syndrome 1
Microphthalmia, Duplication of phalanx of hallux OMIM:243310
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
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Single transverse palmar crease OMIM:619053
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Warburg Micro Syndrome 2
Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe OMIM:614225
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers ORPHA:335
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm ORPHA:268249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb OMIM:614643
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short foot, Microphthalmia, Small hand, Short palm OMIM:241410
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... ORPHA:397715
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... ORPHA:568
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Hydrocephalus, Postaxial polydactyly OMIM:614576
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... OMIM:272950
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence... OMIM:616546
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hip dysplasia ORPHA:494344
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin... ORPHA:2754
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... ORPHA:3472
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Heart And Brain Malformation Syndrome
Hand clenching, Microphthalmia, Camptodactyly of finger OMIM:616920
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Mi... ORPHA:2166
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos ORPHA:2399
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo... OMIM:617925
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... OMIM:227646
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Osteoly... OMIM:601812
X-Linked Dominant Chondrodysplasia Punctata
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... ORPHA:35173
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... OMIM:249000
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Anenceph... OMIM:236680
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Monosomy 9Q22.3
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Microphthalmia ORPHA:77301
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... ORPHA:284160
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda... OMIM:605627
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th... OMIM:300895
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia OMIM:614222
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Camptodactyly, Microphthalmia, Absent palmar crease OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:253800
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia OMIM:603467
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif... ORPHA:84
Jacobsen Syndrome
Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Clinodactyly of the 5th finger, Microphthal... OMIM:147791
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Upper limb asymmetry ORPHA:2505
Incontinentia Pigmenti
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... ORPHA:464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse... ORPHA:1236
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly OMIM:616449
Rodrigues Blindness
Microphthalmia OMIM:268320
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Overlapping toe OMIM:618571
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx OMIM:600901
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Cranium bifidum... ORPHA:306542
Holoprosencephaly
Encephalocele, Anophthalmia, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Hand polydactyl... ORPHA:2162
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing... ORPHA:404448
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... OMIM:209900
Orofaciodigital Syndrome I
Syndactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polydactyly, Radial deviation of fing... OMIM:311200
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Hip dislocation, Umbilical hernia, Holoprosence... OMIM:613884
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinod... ORPHA:457284
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microphthalmia, Joint... OMIM:251300
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephal... OMIM:610829
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx OMIM:227650
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Oculodentodigital Dysplasia
4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Short middle phalanx... OMIM:164200
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Microphthalmia OMIM:614083
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger OMIM:201180
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Tapered finger ORPHA:65286
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Long fingers OMIM:156610
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... OMIM:236670
Myhre Syndrome
Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Short long bone, Short fin... OMIM:139210
Holoprosencephaly 7
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... OMIM:610828
Galloway-Mowat Syndrome 3
Microphthalmia, Arachnodactyly, Hip dislocation, Camptodactyly OMIM:617729
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Abnormal palmar dermatoglyphics ORPHA:2728
Hallermann-Streiff Syndrome
Spina bifida, Abnormality of the hand, Metaphyseal widening, Slender long bone, Microphthalmia OMIM:234100
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia OMIM:613451
Pallister-Hall Syndrome
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... ORPHA:672
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia OMIM:300968
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... ORPHA:2886
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Postaxial hand polydactyly, Sandal gap, Postaxial polydactyly OMIM:174300
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Fanconi Anemia, Complementation Group C
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx OMIM:227645
Rubinstein-Taybi Syndrome 1
Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease, Spina bifida, Ra... OMIM:180849
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of th... ORPHA:364577
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis ... ORPHA:2563
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Deep palmar crease, Polydactyly, Camptodactyly, Clinodactyly of ... OMIM:247200
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm,... OMIM:268400
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:268300
Microphthalmia, Syndromic 2
Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn... OMIM:300166
Oculo-Palato-Cerebral Syndrome
Short foot, Microphthalmia, Small hand ORPHA:2714
Fryns Syndrome
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, St... OMIM:229850
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Choanal Atresia
Polydactyly ORPHA:137914
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Deep palmar crease, Hip... OMIM:616580
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... OMIM:619297
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:2318
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia OMIM:601552
Fryns Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Short distal phalanx of finger ORPHA:2059
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... OMIM:617527
Carpenter Syndrome 2
Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Coxa v... OMIM:614976
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Adducted thumb OMIM:618874
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Atelis Syndrome 2
Microphthalmia, Clinodactyly, Single transverse palmar crease OMIM:620185
Helsmoortel-Van Der Aa Syndrome
Broad hallux, Sandal gap, Tapered finger, Small hand, Genu valgum, Polydactyly, Clinodactyly of t... OMIM:615873
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Micro Syndrome
Microphthalmia ORPHA:2510
Mosaic Variegated Aneuploidy Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Abnormality of the upper limb, Holoprosencephaly ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, Clinodactyly of the 5t... ORPHA:464306
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Brachydactyly OMIM:100300
Dubowitz Syndrome
Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing... OMIM:223370
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... OMIM:607932
22Q11.2 Deletion Syndrome
Arachnodactyly, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Hand polyda... ORPHA:567
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic... OMIM:616734
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Cat Eye Syndrome
Absent radius, Microphthalmia, Umbilical hernia OMIM:115470
Cockayne Syndrome B
Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Square pelvis bone, Normal ... OMIM:133540
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... OMIM:127000
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Single transverse palmar crease OMIM:309801
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
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma... OMIM:612474
Aicardi Syndrome
Microphthalmia, Spina bifida, Proximal placement of thumb OMIM:304050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, 4-5 finger syndactyly, Bi... ORPHA:468631
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Microph... ORPHA:261112
8Q24.3 Microdeletion Syndrome
Long toe, Branchial cyst, Congenital hip dislocation, Short femur, Single transverse palmar creas... ORPHA:508488
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd... OMIM:613610
Hallermann-Streiff Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Small hand, Short foot ORPHA:2108
Witteveen-Kolk Syndrome
Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ... OMIM:613406
Khan-Khan-Katsanis Syndrome
Buphthalmos, Clinodactyly, Postaxial polydactyly OMIM:618460
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Hypoplastic pelvis OMIM:273395
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Bifid femur, Holoprosencephaly, Cli... ORPHA:138
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Congenital aphakia ORPHA:137675
Fraser Syndrome
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Myelomeningocele, Umbilical herni... ORPHA:2052
Fontaine Progeroid Syndrome
Syndactyly, Hydrocephalus, Deep palmar crease, Absent distal phalanges, Umbilical hernia, Neonata... OMIM:612289
Degcags Syndrome
Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Tal... OMIM:619488
Fraser Syndrome 2
Microphthalmia, Cutaneous syndactyly OMIM:617666
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly ORPHA:17
Charge Syndrome
Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Ab... OMIM:214800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Clinodactyly of the 5th finger, Syndactyly, Hip dysplasia, Microphthalmia OMIM:616975
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Hip dysplasia, Small hand, Tapered finger OMIM:620005
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... OMIM:619539
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis... OMIM:610168
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi... OMIM:219000
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Papillorenal Syndrome
Microphthalmia OMIM:120330
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Tapered finger, Abnormal toe morphology, Polydactyly, 2-4 toe cutaneous syndactyly... ORPHA:268261
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor... ORPHA:95494
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Microphthalmia, Syndromic 9
Neonatal death, Anophthalmia, Bilateral microphthalmos OMIM:601186
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing OMIM:259770
Aicardi Syndrome
Microphthalmia, Hip dysplasia, Small hand ORPHA:50
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Branchial anomaly, Talipes equinovarus ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Branchial anomaly, Talipes equinovarus ORPHA:352665
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Broad hallux, Single transverse palmar crease, Microphthalmia, Clinodactyly OMIM:620186
Simpson-Golabi-Behmel Syndrome, Type 1
Short palm, Broad toe, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus, 2-3 fing... OMIM:312870
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Rabson-Mendenhall Syndrome
Polydactyly ORPHA:769
Oculocerebrorenal Syndrome Of Lowe
Hip dislocation, Genu valgum, Buphthalmos, Umbilical hernia, Abnormal epiphysis morphology, Micro... ORPHA:534
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Clubbing ORPHA:33364
Holoprosencephaly 1
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly OMIM:236100
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... OMIM:617088
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus OMIM:253280
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip... ORPHA:353277
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... OMIM:309000
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis OMIM:612731
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c... ORPHA:93325
Proboscis Lateralis
Microphthalmia, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia ORPHA:137605
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Postaxial hand polydactyly, Preaxial polydactyly, Holopros... OMIM:615948
Isolated Arrhinia
Microphthalmia ORPHA:1134
Renpenning Syndrome 1
Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the proximal phalanx... OMIM:309500
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:2556
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Branchiooculofacial Syndrome
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... OMIM:113620
Holoprosencephaly 2
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly OMIM:157170
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
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
Okamoto Syndrome
Hip dysplasia, Polydactyly, Abnormally large globe ORPHA:2729
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, Po... OMIM:619534
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Cockayne Syndrome
Microphthalmia, Abnormal epiphysis morphology ORPHA:191
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Neurocardiofaciodigital Syndrome
Syndactyly, Polydactyly OMIM:619869
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle... OMIM:309800
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C... ORPHA:261537
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Orofaciodigital Syndrome Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum ORPHA:2752
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
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

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 Tmem231

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 Tmem231.

No publications found that use IMPC mice or data for Tmem231.

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MGI Allele Allele Type Produced
Tmem231tm449990(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmem231tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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