Gene Summary

Name:
TOG array regulator of axonemal microtubules 1
Synonyms:
A430041B07Rik,  Fam179b

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Togaram1em1(IMPC)J HOM E15.5 0.00
polydactyly Togaram1em1(IMPC)J HOM E15.5 0.00
abnormal limb bud morphology Togaram1em1(IMPC)J HOM E12.5 0.00
abnormal craniofacial morphology Togaram1em1(IMPC)J HOM E15.5 0.00
microphthalmia Togaram1em1(IMPC)J HOM E12.5 0.00
prenatal lethality prior to heart atrial septation Togaram1em1(IMPC)J HOM   E15.5 0.00
hemorrhage Togaram1em1(IMPC)J HOM E15.5 0.00
hemorrhage Togaram1em1(IMPC)J HOM E12.5 0.00
facial cleft Togaram1em1(IMPC)J HOM E12.5 0.00
preweaning lethality, complete penetrance Togaram1em1(IMPC)J HOM   Early adult 0.00
abnormal forebrain morphology Togaram1em1(IMPC)J HOM E12.5 0.00

Download data as:  TSV  XLS

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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

Gross Morphology Embryo E12.5

Images

2 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

Auditory Brain Stem Response

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

8 Images

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.

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 Similarity of
phenotypes
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