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Gene: Togaram1 MGI:2684313

Gene Summary

Name:

TOG array regulator of axonemal microtubules 1

Synonyms:

A430041B07Rik, Fam179b

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
microphthalmia	Togaram1^em1(IMPC)J	HOM	E12.5
preweaning lethality, complete penetrance	Togaram1^em1(IMPC)J	HOM	Early adult
abnormal forebrain morphology	Togaram1^em1(IMPC)J	HOM	E12.5
hemorrhage	Togaram1^em1(IMPC)J	HOM	E15.5
facial cleft	Togaram1^em1(IMPC)J	HOM	E12.5
abnormal craniofacial morphology	Togaram1^em1(IMPC)J	HOM	E15.5
hemorrhage	Togaram1^em1(IMPC)J	HOM	E12.5
prenatal lethality prior to heart atrial septation	Togaram1^em1(IMPC)J	HOM	E15.5
anophthalmia	Togaram1^em1(IMPC)J	HOM	E15.5
polydactyly	Togaram1^em1(IMPC)J	HOM	E15.5
abnormal limb bud morphology	Togaram1^em1(IMPC)J	HOM	E12.5

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lacZ Expression

Expression data not available

Associated Images

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

Electroretinography 3

Fundus file

4 Images

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Gross Morphology Embryo E12.5

Images

2 Images

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Electrocardiogram (ECG)

Waveform Image

14 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Togaram1 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.

Human diseases associated with Togaram1 (2 diseases)
Human diseases predicted to be associated with Togaram1 (565 diseases)

The table below shows human diseases associated to Togaram1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Joubert Syndrome 37		Microphthalmia, Postaxial polydactyly	OMIM:619185
Joubert Syndrome		Encephalocele, Hand polydactyly, Foot polydactyly	ORPHA:475

The table below shows human diseases predicted to be associated to Togaram1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Facial cleft, Neural tube defect	OMIM:600776
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Tessier number 4 facial cleft	OMIM:600251
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
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
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Abnormality of the humerus, Facial cleft, Aplasia/Hypopla...	ORPHA:1794
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia, Facial cleft, Spina bifida	ORPHA:1104
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral microphthalmos, Facial cl...	OMIM:607597
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia, Facial cleft	ORPHA:66625
Acrofacial Dysostosis, Weyers Type	Postaxial hand polydactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Overlapping...	ORPHA:952
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft	OMIM:613456
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion...	OMIM:206920
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth...	OMIM:613885
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia	OMIM:615524
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
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
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Facial cleft, Anterior encephalocele	OMIM:601357
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation	OMIM:164180
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Hypertelorism, Microtia, Facial Clefting Syndrome	Small thenar eminence, Facial cleft, Short 5th finger, 2-3 toe syndactyly	OMIM:239800
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot	OMIM:616570
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Anencephaly 2	Anophthalmia, Anencephaly	OMIM:619452
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Small hand, Facial cleft, Short palm, Clinodactyly of the 5th f...	ORPHA:1786
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Facial cleft	ORPHA:1791
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Supernumerary Nostril	Facial cleft	ORPHA:141096
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Facial cleft, Microphthalmia, Broad thumb, Bilateral sin...	ORPHA:1236
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Spina bifida, Hip dis...	ORPHA:99776
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Nanophthalmos	Microphthalmia	ORPHA:35612
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Mycophenolate Mofetil Embryopathy	Microphthalmia, Facial cleft, Foot polydactyly, Short palm	ORPHA:268249
Nanophthalmos 4	Microphthalmia	OMIM:615972
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Hydrolethalus	Anophthalmia, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia	ORPHA:2189
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Abnormal pelvic girdle ...	ORPHA:3378
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Midline facial cleft, Preaxial polydactyly, Pr...	OMIM:603671
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Joubert Syndrome 22	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Facial cleft	OMIM:248340
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Facial cleft, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, C...	ORPHA:306542
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Rad...	OMIM:136760
Constricting Bands, Congenital	Encephalocele, Syndactyly, Facial cleft, Hand polydactyly, Talipes equinovarus	OMIM:217100
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Temtamy Syndrome	Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	ORPHA:1777
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Moebius Syndrome	Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta...	OMIM:157900
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Trisomy 1Q	Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly	ORPHA:261344
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Syndactyly, Polydactyly	OMIM:602501
Pierpont Syndrome	Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger...	OMIM:602342
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Heart murmur	OMIM:606744
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Pierpont Syndrome	Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Excessive ...	ORPHA:487825
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus	OMIM:616171
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl...	OMIM:300863
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,...	ORPHA:93267
Hartsfield Syndrome	Encephalocele, Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand	ORPHA:2117
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Cofs Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:1466
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S...	ORPHA:2538
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Pulmonary arterial hypertension	OMIM:300887
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral...	ORPHA:1101
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con...	OMIM:618914
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
17Q12 Microduplication Syndrome	Microphthalmia, Finger syndactyly, Toe syndactyly	ORPHA:261272
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal c...	ORPHA:163966
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly	OMIM:619694
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi...	OMIM:219000
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia	ORPHA:195
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Short palm, Cli...	ORPHA:264200
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Walker-Warburg Syndrome	Metatarsus valgus, Microphthalmia, Anophthalmia	ORPHA:899
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Facial cleft, Branchial fistula	ORPHA:861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy	OMIM:613155
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft	ORPHA:3374
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Warburg Micro Syndrome 1	Microphthalmia, Overlapping toe	OMIM:600118
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Tessier number 13 facial cleft	OMIM:613451
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Nephronophthisis 15	Polydactyly	OMIM:614845
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
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
Temtamy Syndrome	Aortic regurgitation, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachy...	OMIM:218340
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension...	ORPHA:974
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:48431
Martsolf Syndrome 1	Short metacarpal, Cardiac arrest, Metatarsus adductus, Slender ulna, Short toe, Osteopathia stria...	OMIM:212720
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly	OMIM:600151
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Bresek Syndrome	Neonatal death, Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia	ORPHA:85284
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Mi...	OMIM:611134
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Ring Chromosome 10 Syndrome	Microphthalmia, Sandal gap, Tapered finger	ORPHA:1438
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry	ORPHA:231140
Oculofaciocardiodental Syndrome	Short thumb, Broad palm, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2...	ORPHA:2712
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, ...	OMIM:214150
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage	ORPHA:335
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Hypoplasia of the radius, Hip dislocation, Microphthalmia	ORPHA:3412
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia	OMIM:613730
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Talipes eq...	OMIM:251230
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda...	OMIM:605627
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ...	ORPHA:564
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc...	OMIM:601707
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Mosaic Trisomy 1	Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott...	ORPHA:1692
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti...	OMIM:607323
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes...	OMIM:614815
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot	OMIM:610756
Sandestig-Stefanova Syndrome	Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Bilateral single transverse palm...	OMIM:618804
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Refsum Disease	Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology, Micropht...	ORPHA:773
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology	ORPHA:290
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Hand polydactyly, Microphthalm...	ORPHA:2162
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Microphthalmia, Syndromic 9	Neonatal death, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis	OMIM:601186
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn...	OMIM:300166
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial...	OMIM:619879
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Adams-Oliver Syndrome 2	Microphthalmia, Absent distal phalanges, Short middle phalanx of finger, Single transverse palmar...	OMIM:614219
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Gracile Bone Dysplasia	Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly	OMIM:602361
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation, Abnormality of the palmar creases	OMIM:618652
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Joubert Syndrome 37	Microphthalmia, Postaxial polydactyly	OMIM:619185
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
Joubert Syndrome 23	Polydactyly	OMIM:616490
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Monosomy 18P	Microphthalmia, Hypertension, Brachydactyly	ORPHA:1598
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Meningocele, Intracranial hemorrhage, Hypertension, Microph...	OMIM:614424
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
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Holoprosencephaly 1	Microphthalmia, Facial cleft	OMIM:236100
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
Cockayne Syndrome Type 1	Hypertension, Anophthalmia	ORPHA:90321
Chromosome 3Pter-P25 Deletion Syndrome	Macular hypoplasia, Overlapping toe, Postaxial polydactyly, Tapered finger	OMIM:613792
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease	OMIM:619053
Stevenson-Carey Syndrome	Microphthalmia, Hip dysplasia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Hip dysplasia, Prominent fingertip pads, Overlapping fingers, Microphthalmia	OMIM:618494
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal...	OMIM:169400
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Postaxial polydactyly, Abnormally large globe	OMIM:603387
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Ane...	OMIM:619148
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact...	ORPHA:93271
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Broad hallux, Single transverse palmar crease	OMIM:614105
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa...	ORPHA:3103
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Short thumb, Microphthalmia, Overlappin...	OMIM:244300
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Absent thumb	OMIM:617244
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, Flat...	OMIM:616300
Joubert Syndrome 27	Polydactyly	OMIM:617120
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyly of the 5th ...	ORPHA:397590
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor...	OMIM:609053
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,...	ORPHA:464738
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Foot polydactyly, Talipes equ...	ORPHA:250989
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Suleiman-El-Hattab Syndrome	Clinodactyly, Polydactyly, Single transverse palmar crease, Brachydactyly	OMIM:618950
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C...	ORPHA:2092
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Holoprosencephaly 9	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Frontorhiny	Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum...	ORPHA:391474
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Baraitser-Winter Syndrome 1	Microphthalmia, Duplication of phalanx of hallux, Aortic valve stenosis	OMIM:243310
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc...	OMIM:277170
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Polydactyly, Complete duplication of thumb phalanx, Sho...	ORPHA:59315
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut...	OMIM:257850
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ...	OMIM:302960
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val...	ORPHA:193
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Marden-Walker Syndrome	Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Joint ...	OMIM:248700
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia	ORPHA:251038
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, C...	ORPHA:369891
Hogue-Janssen Syndrome 2	Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly	OMIM:616362
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Telangiectasia, Polydactyly, Umbilical hernia	ORPHA:93400
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Congestive heart failure, Upper limb asymmetry	ORPHA:2505
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Abnormal palmar dermatoglyphics, Heart murmur	ORPHA:2728
Warburg Micro Syndrome 2	Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe	OMIM:614225
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia	OMIM:617306
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
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
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short foot, Microphthalmia, Small hand, Short palm	OMIM:241410
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger	OMIM:616920
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th...	ORPHA:568
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ...	ORPHA:2556
Incontinentia Pigmenti	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,...	ORPHA:464
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Chromosome 1Q41-Q42 Deletion Syndrome	3-4 finger cutaneous syndactyly, Microphthalmia, Sandal gap, Talipes equinovarus	OMIM:612530
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Broad hallux, Overlapping toe, Abnormality of the hand, Optic nerve hypopla...	ORPHA:508498
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly	OMIM:616449
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Ab...	OMIM:214800
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hip dysplasia	ORPHA:494344
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Charge Syndrome	Anophthalmia, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th finger, Microphthal...	ORPHA:138
Fraser Syndrome	Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Myelomeningocele, Umbilical herni...	ORPHA:2052
X-Linked Dominant Chondrodysplasia Punctata	Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip...	ORPHA:35173
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Irregular ossification of hand bones, Polydact...	OMIM:109400
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Pulmonary arterial hypertension, Tapered finger	ORPHA:65286
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger...	ORPHA:90652
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen...	ORPHA:284160
Pseudotrisomy 13 Syndrome	Encephalocele, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microp...	OMIM:264480
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Hand polydactyly, Microphthalmia...	ORPHA:401973
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Osteoly...	OMIM:601812
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia	OMIM:614222
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Microphthalmia, Long th...	OMIM:300895
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypoplasia, Short lo...	OMIM:617925
Stromme Syndrome	Microphthalmia, Stillbirth, Preaxial polydactyly, Optic nerve hypoplasia	OMIM:243605
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Camptodactyly, Microphthalmia, Absent palmar crease	OMIM:614230
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Rodrigues Blindness	Microphthalmia	OMIM:268320
Atelis Syndrome 2	Single transverse palmar crease, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic st...	OMIM:620185
Oculodentodigital Dysplasia	4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Arrhythmia, Short mi...	OMIM:164200
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia	OMIM:603467
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin...	ORPHA:2754
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Macular hypoplasia,...	OMIM:300960
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Overlapping toe	OMIM:618571
Galloway-Mowat Syndrome 3	Arachnodactyly, Hip dislocation, Hypertension, Camptodactyly, Microphthalmia	OMIM:617729
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial...	OMIM:113620
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Micromelia, Spina bifida,...	OMIM:256520
Joubert Syndrome 2	Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydactyly, Encephalocele	OMIM:608091
Trisomy 18	Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Anencephaly, Deviation of fing...	ORPHA:3380
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus, Hypoplasia o...	ORPHA:3186
Myhre Syndrome	Overlapping toe, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Hypertension, Short long b...	OMIM:139210
9Q21.13 Microdeletion Syndrome	Hip dysplasia, Polydactyly	ORPHA:531151
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Phocomelia, Mi...	OMIM:184705
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Long fingers	OMIM:156610
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microphthalmia, Joint...	OMIM:251300
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia	ORPHA:3301
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh...	ORPHA:397715
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short thumb, Small hand, Telangiectasia, Short foot, Talipes equinova...	OMIM:268400
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Hallermann-Streiff Syndrome	Abnormality of the hand, Spina bifida, Metaphyseal widening, Telangiectasia, Slender long bone, H...	OMIM:234100
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Hypertension, Pulmonary arterial hypertension, Talipes equinovarus...	OMIM:100300
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Oculo-Palato-Cerebral Syndrome	Short foot, Microphthalmia, Small hand	ORPHA:2714
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Postaxial polydactyly	OMIM:614576
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial...	OMIM:249000
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis ...	ORPHA:2563
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
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle...	OMIM:309800
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
Monosomy 9Q22.3	Palmar pits, Microphthalmia, Umbilical hernia, Polydactyly	ORPHA:77301
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi...	ORPHA:1587
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly	OMIM:614099
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Adducted thumb	OMIM:618874
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Branchi...	OMIM:164210
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
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
Hallermann-Streiff Syndrome	Congestive heart failure, Small hand, Short foot, Clinodactyly of the 5th finger, Microphthalmia	ORPHA:2108
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip dysplasia	OMIM:300968
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Tapered finger, Small hand, Heart murmur, Genu valgum, Mitral regurgita...	OMIM:615873
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, St...	OMIM:229850
Orofaciodigital Syndrome I	Syndactyly, Myelomeningocele, Short 2nd toe, Hypertension, Polydactyly, Radial deviation of finge...	OMIM:311200
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy...	ORPHA:2886
Cat Eye Syndrome	Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis	OMIM:115470
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Anenceph...	OMIM:236680
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Postaxial hand polydactyly, Sandal gap, Postaxial polydactyly	OMIM:174300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, ...	ORPHA:464306
Micro Syndrome	Microphthalmia	ORPHA:2510
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Deep palmar crease, Polydactyly, Camptodactyly, Clinodactyly of ...	OMIM:247200
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper...	OMIM:609049
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Portal hypertension, Tapered finger, Small hand, Pulmonary arterial hypertension, Hip dysplasia, ...	OMIM:620005
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Jacobsen Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Macular hypoplasia, Brachydactyly	OMIM:147791
Dubowitz Syndrome	Syndactyly, Single transverse palmar crease, Hypoplasia of the iris, Clinodactyly of the 5th fing...	OMIM:223370
Khan-Khan-Katsanis Syndrome	Buphthalmos, Clinodactyly, Tricuspid regurgitation, Postaxial polydactyly	OMIM:618460
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Postaxial hand polydactyly, Umbilical hernia	ORPHA:2166
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me...	OMIM:619297
Carpenter Syndrome 2	Short digit, Tricuspid regurgitation, Single transverse palmar crease, Postaxial polydactyly, Pre...	OMIM:614976
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic...	OMIM:616734
Fanconi Anemia, Complementation Group L	Absent radius, Microphthalmia, Bilateral talipes equinovarus, Absent thumb	OMIM:614083
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ...	ORPHA:672
Choanal Atresia	Polydactyly	ORPHA:137914
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl...	OMIM:617527
Papillorenal Syndrome	Microphthalmia, Hypertension	OMIM:120330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S...	OMIM:612474
Rubinstein-Taybi Syndrome 1	Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease, Spina bifida, Ra...	OMIM:180849
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Mic...	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
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Hypertension, Deep palm...	OMIM:616580
Lymphedema-Distichiasis Syndrome	Microphthalmia, Arrhythmia	OMIM:153400
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Anencephaly, Occipita...	OMIM:616546
Monosomy 9P	Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Microph...	ORPHA:261112
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Hip dislocation, Umbilical hernia, Clinodactyly...	OMIM:613884
Degcags Syndrome	Syndactyly, Tachycardia, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Pul...	OMIM:619488
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Hypertension, Square pelvis...	OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5...	ORPHA:457284
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly	OMIM:617666
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Meningocele, Occipital myelomeningocel...	ORPHA:567
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Postaxial hand polydactyly, Hypertension, Polydactyly, Mesomelia, Clinoda...	OMIM:613610
Witteveen-Kolk Syndrome	Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
Mosaic Variegated Aneuploidy Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Abnormality of the upper limb, Aortic regurgitation	ORPHA:1052
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
8Q24.3 Microdeletion Syndrome	Long toe, Gastrointestinal hemorrhage, Branchial cyst, Congenital hip dislocation, Short femur, S...	ORPHA:508488
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:268300
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage	OMIM:308300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Hypertrophic cardiomyopathy, Short femur, Polydactyly	ORPHA:17
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Syndactyly, Hip dysplasia, Microphthalmia	OMIM:616975
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Broad hallux, Single transverse palmar crease, Pulmonary arterial hypertension, M...	OMIM:620186
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Aortic regurgitation, Tapered finger, Abnormal toe morphology, Polydactyly, 2-4 to...	ORPHA:268261
Aicardi Syndrome	Microphthalmia, Hip dysplasia, Small hand	ORPHA:50
Fontaine Progeroid Syndrome	Syndactyly, Tricuspid regurgitation, Pulmonary arterial hypertension, Deep palmar crease, Absent ...	OMIM:612289
Rabson-Mendenhall Syndrome	Cardiomyopathy, Polydactyly	ORPHA:769
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Legius Syndrome	Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly...	ORPHA:137605
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Trichothiodystrophy	Cardiomyopathy, Bilateral microphthalmos, Clubbing, Umbilical hernia	ORPHA:33364
Cockayne Syndrome Type 3	Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, Microphthalmia	ORPHA:90324
Aicardi Syndrome	Microphthalmia, Spina bifida, Proximal placement of thumb	OMIM:304050
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c...	ORPHA:93325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Avascular necr...	ORPHA:353277
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
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
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
Oculocerebrorenal Syndrome Of Lowe	Hip dislocation, Genu valgum, Buphthalmos, Umbilical hernia, Abnormal epiphysis morphology, Micro...	ORPHA:534
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth...	OMIM:309000
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 finger syndactyly, ...	OMIM:312870
Okamoto Syndrome	Hip dysplasia, Polydactyly, Aortic valve stenosis, Abnormally large globe	ORPHA:2729
Renpenning Syndrome 1	Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the proximal phalanx...	OMIM:309500
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ...	OMIM:192350
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Hypotension, Abnormal digit morphology	ORPHA:95494
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Cockayne Syndrome	Retinal hemorrhage, Microphthalmia, Hypertension, Abnormal epiphysis morphology	ORPHA:191
Faciocardiomelic Syndrome	Slender long bone, Polydactyly, Hypoplastic pelvis	OMIM:612731
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Syndactyly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P...	OMIM:619534
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
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ...	OMIM:610168
Joubert Syndrome	Encephalocele, Hand polydactyly, Foot polydactyly	ORPHA:475
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Tetraamelia Syndrome 1	Microphthalmia, Hypoplastic pelvis	OMIM:273395
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly	OMIM:301022
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,...	OMIM:175780
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261537
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly	OMIM:619869
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
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C...	ORPHA:2152
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Broad hallux, Preaxial polydactyly, Postaxial hand polydactyly	OMIM:615948
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:235730
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170

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 Togaram1

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 Togaram1.

No publications found that use IMPC mice or data for Togaram1.

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MGI Allele	Allele Type	Produced
Togaram1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Togaram1^em1(IMPC)J	Exon Deletion	Mice
Togaram1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Togaram1 MGI:2684313

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electroretinography 3

Gross Morphology Embryo E12.5

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Togaram1 mutations

Histopathology

IMPC related publications

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