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Gene: Togaram1 MGI:2684313

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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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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Eye Morphology

Images Slit Lamp

1 Images

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Gross Morphology Embryo E12.5

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

6 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 37
Postaxial polydactyly, Microphthalmia OMIM:619185
Joubert Syndrome
Foot polydactyly, Orofacial cleft, Encephalocele, Hand 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
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Deep palmar crease, Cleft palate, Microphthalmia OMIM:600251
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Anophthalmia, Bilateral cleft palate, Spina bifida, Non-midli... ORPHA:1104
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Oculomaxillofacial Dysostosis
Tessier cleft, Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Brachydactyly, Addu... ORPHA:1794
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Cleft palate, Synda... ORPHA:294975
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephal... OMIM:607597
Anencephaly 2
Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia, Anencephaly OMIM:619452
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Microphthalmia OMIM:613456
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Syndromic 12
Neonatal death, Anophthalmia, Cleft palate, Microphthalmia OMIM:615524
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Mmep Syndrome
Orofacial cleft, Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Cerebrooculonasal Syndrome
Tessier cleft, Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Small hand, Overlapping fingers, Postaxial hand polydactyly, Clinodactyly of the 5... ORPHA:952
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft... OMIM:601357
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate OMIM:164180
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Cleft palate, Microphthalmia OMIM:616570
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, 2-3 toe syndactyly, Small thenar eminence, Cleft palate OMIM:239800
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Microphthalmia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Hydrolethalus
Unilateral cleft lip, Micromelia, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Post... ORPHA:2189
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Oculocerebrocutaneous Syndrome
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Oro... ORPHA:1647
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Acrofacial Dysostosis, Catania Type
Tessier cleft, Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina b... ORPHA:1786
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Supernumerary Nostril
Tessier cleft ORPHA:141096
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Mosaic Trisomy 9
Tessier cleft, Micromelia, Finger clinodactyly, Camptodactyly of finger, Elbow dislocation, Talip... ORPHA:99776
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, ... ORPHA:1236
Microphthalmia, Syndromic 8
Orofacial cleft, Split foot, Cleft palate, Microphthalmia OMIM:601349
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmia, Proximal placement o... ORPHA:139471
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Microphthalmia, Foot polydactyly, Short palm ORPHA:268249
Nanophthalmos
Microphthalmia ORPHA:35612
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Aplasia/Hypoplasia of the iris, Anophthalmi... ORPHA:3378
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... OMIM:603194
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Microphthalmia, Non-midline cleft of... ORPHA:2117
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... ORPHA:1106
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Anterior basal encephaloce... OMIM:136760
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Nanophthalmos 4
Microphthalmia OMIM:615972
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palate, Syndactyly OMIM:217100
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Microphthalmia OMIM:120433
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis, Cleft palate OMIM:248340
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral m... ORPHA:306542
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Bartsocas-Papas Syndrome 1
Tessier cleft, Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac w... OMIM:263650
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia OMIM:615665
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Occipital encephalocele, Microphthalmia ORPHA:324416
Braddock-Carey Syndrome 2
Clinodactyly, Cleft palate, Microphthalmia OMIM:619981
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Cleft palate, Microphthalmia ORPHA:261272
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Anophthalmia, Arachnodactyly,... ORPHA:261344
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Bartsocas-Papas Syndrome 2
Small hand, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft lip, 2-5 finger cuta... OMIM:619339
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Temtamy Syndrome
Short toe, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia OMIM:182230
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia OMIM:610125
Isolated Arrhinia
Tessier cleft, Microphthalmia ORPHA:1134
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Cleft palate, Polydactyly OMIM:300484
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Deep palmar crease, Broad palm, Microphthalmia... OMIM:602342
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly, Microphthalmia OMIM:602501
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Excessive wrinkling of palmar skin, Deep palma... ORPHA:487825
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Talipes equinovarus, Microphthalmia OMIM:616171
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bon... ORPHA:93267
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Cleft palate ORPHA:899
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Clino... OMIM:169550
Cofs Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:1466
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Short thumb, Ectrodactyly, Elbow dislocation, Oligodactyly, Absent hand, Micro... ORPHA:2538
Unilateral Ocular Duplication
Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Microphthalmia, Postaxial hand polydactyly, Meningocele,... OMIM:611134
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Tricuspid regurgitation, Umbilical hernia, An... ORPHA:1101
Seckel Syndrome 2
Heart murmur, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger ... ORPHA:435638
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Sandal gap, Microphthalmia OMIM:300887
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Postaxial polydactyly, Flat ace... OMIM:617102
Microphthalmia, Syndromic 11
Cleft palate, Microphthalmia OMIM:614402
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Coxa valga, Fla... ORPHA:163649
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Fraser Syndrome 1
Tessier cleft, Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndactyly, Wide pubi... OMIM:219000
Bresek Syndrome
Neonatal death, Postaxial hand polydactyly, Microphthalmia, Cleft palate, Optic nerve hypoplasia ORPHA:85284
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Oculofaciocardiodental Syndrome
Short thumb, Genu valgum, Flexion contracture of the 4th toe, Submucous cleft hard palate, 2-3 to... ORPHA:2712
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Camptodactyly of finger, Microphthalmia ORPHA:2547
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Brachydactyly, Microphthalmia OMIM:614526
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Developmental Delay With Variable Neurologic And Brain Abnormalities
Camptodactyly, Cubitus valgus, Down-sloping shoulders, Microphthalmia OMIM:619694
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial... OMIM:614815
Treacher-Collins Syndrome
Tessier cleft, Branchial fistula, Encephalocele, Microphthalmia, Cleft palate ORPHA:861
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, Microphthalmia ORPHA:1135
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Orofaciodigital Syndrome Iv
Toe syndactyly, Clinodactyly, Short tibia, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Dislocation of the f... OMIM:260660
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Postaxial hand polydactyly, Cle... OMIM:607361
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft palate, Microphthalmia ORPHA:1473
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anophthalmia, Bilat... ORPHA:264200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Microphthalmia OMIM:613155
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Absent radius, Oligodactyly, Humeroradial synostosis, Neon... OMIM:251230
Frontonasal Dysplasia 2
Tessier number 13 facial cleft, Encephalocele, Microphthalmia OMIM:613451
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptodactyly of finger, Elbo... ORPHA:1692
Sandestig-Stefanova Syndrome
Clinodactyly, Bilateral single transverse palmar creases, Orofacial cleft, Microphthalmia, Campto... OMIM:618804
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Warburg Micro Syndrome 1
Overlapping toe, Microphthalmia OMIM:600118
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Finger joint contracture, Microphthalmia ORPHA:48431
Lissencephaly 8
Talipes equinovarus, Occipital encephalocele, Microphthalmia OMIM:617255
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Opt... OMIM:605627
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar deviation of th... OMIM:614175
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... ORPHA:2839
Temtamy Syndrome
Aortic regurgitation, Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe, Hip disl... OMIM:218340
Nephronophthisis 15
Polydactyly OMIM:614845
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Anophthalm... ORPHA:564
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Telangiectasia, Microphthalmia, Foot polydactyly, Short metacarpal,... OMIM:305600
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Martsolf Syndrome 1
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... OMIM:212720
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly OMIM:615996
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Absent hand, Port... ORPHA:974
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Bilateral microphthalmos, Elbow fl... OMIM:610758
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Microphth... OMIM:146510
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger OMIM:607131
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Microphthalmia OMIM:618805
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing ... OMIM:614091
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia ORPHA:3191
Monosomy 18P
Hypertension, Brachydactyly, Cleft palate, Microphthalmia ORPHA:1598
Ring Chromosome 10 Syndrome
Tapered finger, Sandal gap, Microphthalmia ORPHA:1438
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Holoprosencephaly
Spinal dysraphism, Median cleft palate, Anophthalmia, Encephalocele, Branchial anomaly, Bilateral... ORPHA:2162
Pelger-Huet Anomaly
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Median clef... OMIM:169400
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... ORPHA:251014
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Um... OMIM:300166
Baraitser-Winter Syndrome 2
Orofacial cleft, Microphthalmia OMIM:614583
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Meningocele, Microphthalmia, Intracranial hemorrhage, Hyper... OMIM:614424
Congenital Fibrinogen Deficiency
Clubbing of fingers, Tachycardia, Internal hemorrhage, Microphthalmia ORPHA:335
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Second metatarsal posteriorly placed, M... OMIM:214150
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia OMIM:613730
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... ORPHA:404440
Vacterl With Hydrocephalus
Anophthalmia, Hypoplasia of the radius, Spina bifida, Microphthalmia, Hip dislocation ORPHA:3412
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio... OMIM:601707
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Optic disc hypoplasia, Apla... ORPHA:959
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cleft palate, Anophthalmia, Submucous cleft hard palate, Microphthalmia ORPHA:2250
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Overlapping toe, Overlapping fingers, Microphthalmia, Hip dysplasia, Cl... OMIM:618494
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Hypoplastic inferior ilia, Flared metaphysis, Short finger, Femo... OMIM:608940
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Optic disc hypoplasia, Short thumb, Preaxial polydact... OMIM:607323
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping fingers, Bilater... OMIM:244300
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Clef... ORPHA:397590
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Microphthalmia OMIM:610756
Holoprosencephaly 1
Tessier cleft, Median cleft palate, Microphthalmia OMIM:236100
Refsum Disease
Abnormal epiphysis morphology, Cardiomyopathy, Short metacarpal, Microphthalmia, Hammertoe, Heart... ORPHA:773
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis, Neonatal death OMIM:601186
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitatio... OMIM:619879
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Encephalocele, Basal ence... ORPHA:391474
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Adams-Oliver Syndrome 2
Single transverse palmar crease, Short middle phalanx of finger, Absent distal phalanges, Microph... OMIM:614219
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocele, Fibular hypopla... OMIM:616300
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Orofacial cleft, Duplication of phalanx of hallux, Microphthalmia OMIM:243310
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Microphthalmia OMIM:602361
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Abnormality of the palmar creases, Microphthalmia OMIM:618652
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microphthalmia, Cleft palate ORPHA:251038
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... OMIM:618142
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Tarp Syndrome
Clinodactyly, Subdural hemorrhage, Single transverse palmar crease, Neonatal death, Postaxial pol... OMIM:311900
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Ulnar bowing, Hypoplasia of t... OMIM:619135
Garg-Mishra Progeroid Syndrome
Slender long bone, Slender metacarpals, Microphthalmia, Broad palm, Coxa valga OMIM:620601
Joubert Syndrome 23
Polydactyly OMIM:616490
Joubert Syndrome 37
Postaxial polydactyly, Microphthalmia OMIM:619185
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Clinodactyly, Finger syndactyly, Overlapping toe, Overlapping finger... ORPHA:464738
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Congestive heart failure, Microphthalmia, Cleft palate, Upper limb asymmetry ORPHA:2505
Cockayne Syndrome Type 1
Hypertension, Anophthalmia ORPHA:90321
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Anophthalmia, Single transverse palmar crea... OMIM:607932
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Microphthalmia, Clinodact... ORPHA:1352
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Abnormal palmar dermatoglyphics, Cleft palate, Microphthalmia ORPHA:2728
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia OMIM:619053
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Macular hypoplasia, Overlapping toe, Tapered finger OMIM:613792
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Fanconi Anemia, Complementation Group S
Proximal placement of thumb, Clinodactyly, Microphthalmia OMIM:617883
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Hip dysplasia, Microphthalmia OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Abnormally large globe, Mitral regurgitation OMIM:603387
Teebi-Shaltout Syndrome
Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Ul... OMIM:272950
Marden-Walker Syndrome
Joint contracture of the hand, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Microp... OMIM:248700
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Clinodactyly, Broad hallux, 3-4 toe syndactyly, Brachydactyly, Microphthalmia OMIM:618727
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea... OMIM:619148
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Micromelia, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Postaxia... ORPHA:93271
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... ORPHA:2334
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Orofacial cleft, Microp... ORPHA:568
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Microphthalmia OMIM:617244
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Single transverse palmar crease, Microphthalmia OMIM:614105
Holoprosencephaly 9
Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Postaxial hand polydac... OMIM:610829
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly OMIM:611560
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2... OMIM:620098
Oculopalatocerebral Syndrome
Cleft palate, Microphthalmia OMIM:257910
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Joubert Syndrome 27
Polydactyly OMIM:617120
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Median cleft palate, Tibial bowing,... OMIM:612651
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Hand polydactyl... ORPHA:250989
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly OMIM:618950
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the radius, Microphthalmia, Optic ... OMIM:609053
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia ORPHA:1942
3Q29 Microdeletion Syndrome
Orofacial cleft, Pulmonary arterial hypertension, Microphthalmia, Clinodactyly of the 5th finger,... ORPHA:65286
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, Brachydactyly, Syn... OMIM:617895
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Talipes equinovarus, Microphthalmia, 3-4 finger cutaneous syndactyly, Cleft palate OMIM:612530
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... OMIM:257850
Nance-Horan Syndrome
Short phalanx of finger, Broad finger, Microphthalmia OMIM:302350
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Congestive heart failure, Camptodactyly of finger, Abnorm... ORPHA:464
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Short phalanx of finger, Septo-optic dysplasia, Complete duplicat... ORPHA:59315
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pelvic girdle bone morphology, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Cohen Syndrome
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac... ORPHA:193
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, 2-3 toe syndactyly, Pulmonary arterial hypertension, Microphthal... OMIM:616449
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormality of the hand, Camptodactyly,... ORPHA:369891
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Anophthalmia, Polydactyly, Brachydactyl... ORPHA:138
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia OMIM:193220
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... OMIM:109400
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Ha... ORPHA:401973
Houge-Janssens Syndrome 2
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Anop... ORPHA:2052
Stromme Syndrome
Preaxial polydactyly, Stillbirth, Microphthalmia, Cleft palate, Optic nerve hypoplasia OMIM:243605
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Cardiomyopathy, Microphthalmia ORPHA:370959
Chromosome 8Q21.11 Deletion Syndrome
Absent palmar crease, Microphthalmia, Camptodactyly, Short metacarpal, Cleft palate, Syndactyly OMIM:614230
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Median cleft palate, Encephalocele, 2-3 toe syndactyly, Postaxial han... OMIM:264480
Congenital Sialidosis Type 2
Umbilical hernia, Abnormal EKG, Polydactyly, Telangiectasia, Hypoplasia of the fovea ORPHA:93400
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Myelomeningocele, ... ORPHA:90652
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Cleft palate, Microphthalmia OMIM:618571
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Orofacial cleft, Hypoplasia of the radius, Hyp... ORPHA:3186
Fetal Alcohol Syndrome
Non-midline cleft of the upper lip, Cleft palate, Microphthalmia ORPHA:1915
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphthalmia ORPHA:891
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Neonatal death, Fibular hypoplasia, Postaxial polydactyly, Hyp... OMIM:617925
Oculodentodigital Dysplasia
Hip dislocation, Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th finger, Cubitus v... OMIM:164200
Charge Syndrome
Bifid femur, Short thumb, Umbilical hernia, Absent radius, Unilateral microphthalmos, Anophthalmi... OMIM:214800
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short metacarp... OMIM:201180
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Warburg Micro Syndrome 2
Clinodactyly of the 5th toe, Overlapping toe, Clinodactyly of the 4th toe, Microphthalmia OMIM:614225
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Short foot, Short palm, Microphthalmia OMIM:241410
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Steinfeld Syndrome
Median cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the r... OMIM:184705
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Cleft palate, Microphthalmia OMIM:156610
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Heart And Brain Malformation Syndrome
Hand clenching, Camptodactyly of finger, Microphthalmia OMIM:616920
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... ORPHA:2754
Oculo-Palato-Cerebral Syndrome
Small hand, Short foot, Cleft palate, Microphthalmia ORPHA:2714
Trisomy 18
Deviation of finger, Narrow pelvis bone, Camptodactyly of finger, Abnormal hip bone morphology, B... ORPHA:3380
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Orofacial cleft, Septo-optic dysplasia, Microphthalmia ORPHA:3301
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Ove... ORPHA:508498
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Exudative Vitreoretinopathy 2, X-Linked
Retinal neovascularization, Microphthalmia OMIM:305390
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Kapur-Toriello Syndrome
Orofacial cleft, Microphthalmia ORPHA:2328
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft lip, Unilateral microphthalmos, Adducted thumb, Bilateral cleft palate OMIM:618874
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Microphthalmia, Ven... OMIM:300952
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Rere-Related Neurodevelopmental Syndrome
Hip dysplasia, Microphthalmia ORPHA:494344
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Talipes equinovarus, Neonatal epiphyseal stippling, Microphthalmia, Hip dis... ORPHA:35173
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Aplasia of the distal phalanges of the hand, Microph... ORPHA:3472
Myhre Syndrome
Aortic valve stenosis, Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial devia... OMIM:139210
Neu-Laxova Syndrome 1
Hydranencephaly, Toe syndactyly, Joint contracture of the hand, Finger syndactyly, Clinodactyly, ... OMIM:256520
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia ORPHA:228390
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen... ORPHA:284160
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Branchial anomaly, Anophthalmi... OMIM:113620
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Tibial bowing, Flexion contracture of finger, ... OMIM:601812
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
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
Abnormally large globe, Microphthalmia OMIM:615249
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Ohdo Syndrome, X-Linked
Clinodactyly, Short thumb, Overlapping toe, Long thumb, Ulnar deviation of the hand, Microphthalm... OMIM:300895
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia OMIM:614222
Proboscis Lateralis
Orofacial cleft, Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Polydactyly, Orofacial cleft, Microphthalmia ORPHA:77301
Adams-Oliver Syndrome 1
Aortic valve stenosis, Toe syndactyly, Encephalocele, Talipes equinovarus, Pulmonary arterial hyp... OMIM:100300
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Microphthalmia OMIM:603467
Rodrigues Blindness
Microphthalmia OMIM:268320
Atelis Syndrome 2
Clinodactyly, Single transverse palmar crease, Vitreous hemorrhage, Microphthalmia, Supravalvar p... OMIM:620185
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... OMIM:300960
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Brachydactyly, Microphthalmia, Cleft palate, Aplasi... ORPHA:364577
Galloway-Mowat Syndrome 3
Arachnodactyly, Microphthalmia, Camptodactyly, Hypertension, Hip dislocation OMIM:617729
Joubert Syndrome 2
Postaxial hand polydactyly, Postaxial foot polydactyly, Encephalocele, Microphthalmia OMIM:608091
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Orofacial cleft, Postaxial hand polydactyly, Microphthalmia, Cle... ORPHA:2166
Microphthalmia, Syndromic 1
Joint contracture of the hand, Clinodactyly, Prominent fingertip pads, Radial deviation of finger... OMIM:309800
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx OMIM:600901
Fryns Syndrome
Short distal phalanx of finger, Microphthalmia, Clinodactyly of the 5th finger, Non-midline cleft... ORPHA:2059
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... OMIM:209900
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Toe syndactyly, Aplasia/Hypoplasia of the radius... ORPHA:84
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Absent thumb, Short thumb, Microphthalmia OMIM:610832
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx OMIM:227650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Encephalocele, Cleft palate, Microphthalmia OMIM:613150
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Cleft ... OMIM:174300
Cat Eye Syndrome
Umbilical hernia, Pulmonic stenosis, Absent radius, Microphthalmia, Cleft palate OMIM:115470
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation of finger, Ca... OMIM:249000
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos ORPHA:91495
Galloway-Mowat Syndrome 1
Hand clenching, Slender finger, Joint contracture of the hand, Hypoplasia of the iris, Talipes eq... OMIM:251300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap... ORPHA:397715
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia OMIM:221900
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovarus, Duplication of phalanx of... OMIM:236680
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Short finger, Submucous cleft soft palate, Short di... OMIM:608670
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Cleft palate, Tape... OMIM:300968
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Myelomeningocele, Polydactyly, Brachydactyly, Short 2nd... OMIM:311200
Tarp Syndrome
Clinodactyly, Finger syndactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... ORPHA:2886
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Absen... OMIM:227646
Hallermann-Streiff Syndrome
Slender long bone, Telangiectasia, Abnormality of the hand, Pulmonary arterial hypertension, Spin... OMIM:234100
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Short thumb, Telangiectasia, Talipes equinovarus, Forearm... OMIM:268400
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Adducted thumb, Optic nerve hypoplasia, Encephalocele, Microphthalmia OMIM:614643
Fryns Syndrome
Short distal phalanx of finger, Joint contracture of the hand, Prominent fingertip pads, Short th... OMIM:229850
Fanconi Anemia, Complementation Group L
Absent thumb, Microphthalmia, Absent radius, Bilateral talipes equinovarus, Cleft palate OMIM:614083
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Hip dysplasia OMIM:614576
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Lymphedema-Distichiasis Syndrome
Arrhythmia, Cleft palate, Microphthalmia OMIM:153400
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Short sternum, Large hands, Congenital pseudoarthrosis ... ORPHA:2563
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Skin Creases, Congenital Symmetric Circumferential, 2
2-3 toe syndactyly, Long fingers, Microphthalmia, Short palm, Clinodactyly of the 5th finger, Cle... OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Encephalocele, Pulmonic stenosis, Microphthalmia OMIM:253800
Craniofacial Microsomia 1
Occipital encephalocele, Genu valgum, Branchial anomaly, Anophthalmia, Partial duplication of thu... OMIM:164210
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Absent radius, Microphthalmia, Complete duplication of thumb phalanx OMIM:227645
Xeroderma Pigmentosum, Complementation Group D
Telangiectasia, Corneal neovascularization, Microphthalmia OMIM:278730
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Single transverse palmar crease, Polydac... ORPHA:404448
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Single transverse palmar crease, Arr... OMIM:309801
Culler-Jones Syndrome
Postaxial polydactyly, Cleft palate OMIM:615849
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly... OMIM:616546
Monosomy 13Q14
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Brachydactyly, Microphthalmia, Clinodactyly o... ORPHA:1587
Holoprosencephaly 7
Unilateral cleft lip, Bilateral microphthalmos, Median cleft palate, Bilateral cleft palate, Bila... OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Dubowitz Syndrome
Hypoplasia of the iris, Submucous cleft hard palate, Single transverse palmar crease, Microphthal... OMIM:223370
Traboulsi Syndrome
Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia OMIM:601552
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Hallermann-Streiff Syndrome
Small hand, Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Short foot ORPHA:2108
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Delayed epiphyseal ossification, Elbow dislocation, Hip contracture, Bowing ... OMIM:210710
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Cleft palate, Optic n... OMIM:236670
Monosomy 9P
Abnormality of the tarsal bones, Bilateral single transverse palmar creases, Postaxial hand polyd... ORPHA:261112
Helsmoortel-Van Der Aa Syndrome
Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad hallux, Genu valgum, Clino... OMIM:615873