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
microphthalmia Togaram1em1(IMPC)J HOM E12.5 0.00
abnormal forebrain morphology Togaram1em1(IMPC)J HOM E12.5 0.00
hemorrhage Togaram1em1(IMPC)J HOM E15.5 0.00
abnormal craniofacial morphology Togaram1em1(IMPC)J HOM E15.5 0.00
facial cleft Togaram1em1(IMPC)J HOM E12.5 0.00
hemorrhage Togaram1em1(IMPC)J HOM E12.5 0.00
preweaning lethality, complete penetrance Togaram1em1(IMPC)J HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Togaram1em1(IMPC)J HOM   E15.5 0.00
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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

14 Images

Gross Morphology Embryo E12.5

Images

2 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
Postaxial polydactyly, Microphthalmia OMIM:619185

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
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Neural tube defect, Microphthalmia OMIM:600776
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Meckel Syndrome, Type 8
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... OMIM:613885
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Adducted thumb, Camptodactyly of finger, Abnormality of the... ORPHA:1794
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia, Facial cleft, Deviation of finger ORPHA:1104
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Ethmoidal encephalocele, Facial cle... OMIM:607597
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Frontonasal Dysplasia 3
Facial cleft, Microphthalmia OMIM:613456
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia, Facial cleft ORPHA:66625
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Anophtha... OMIM:206920
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Small hand, Overlapping fingers, Postaxial hand polydactyly, Faci... ORPHA:952
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Stillbirth ORPHA:294975
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nanophthalmos 4
Microphthalmia OMIM:615972
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Facial Clefting, Oblique, 1
Deep palmar crease, Facial cleft OMIM:600251
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia OMIM:616570
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Facial cleft, Anterior encephalocele, Short femur OMIM:601357
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... OMIM:615297
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Congenital hip dislocation, Anophthalmia, Microphthalmia OMIM:164180
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, 2-3 toe syndactyly, Short 5th finger, Facial cleft OMIM:239800
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Facial cleft, Bowing of the long bones, Short long bone, Aceta... ORPHA:1505
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Microphthalmia... ORPHA:1617
Supernumerary Nostril
Facial cleft ORPHA:141096
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Clinodactyly, Microphthalmia OMIM:610023
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Frontofacionasal Dysplasia
Encephalocele, Facial cleft, Microphthalmia ORPHA:1791
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Acrofacial Dysostosis, Catania Type
Clinodactyly of the 5th finger, Small hand, Brachydactyly, Bilateral single transverse palmar cre... ORPHA:1786
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Facial cleft, Hand polydactyly, Finge... ORPHA:1647
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Bilateral single transverse palmar creases, Tapered finger, Broad thumb,... ORPHA:1236
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proximal placement of thumb, Finger syn... ORPHA:139471
Mosaic Trisomy 9
Microphthalmia, Talipes equinovarus, Deep palmar crease, Camptodactyly of finger, Finger clinodac... ORPHA:99776
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Bardet-Biedl Syndrome 7
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Nanophthalmos
Microphthalmia ORPHA:35612
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hydrolethalus
Anencephaly, Anophthalmia, Micromelia, Arrhinencephaly, Postaxial hand polydactyly, Microphthalmia ORPHA:2189
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Mycophenolate Mofetil Embryopathy
Short palm, Foot polydactyly, Facial cleft, Microphthalmia ORPHA:268249
Trisomy 13
Ectrodactyly, Anophthalmia, Bilateral single transverse palmar creases, Postaxial hand polydactyl... ORPHA:3378
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... OMIM:617927
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia OMIM:615665
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Bartsocas-Papas Syndrome 1
Talipes equinovarus, Absent thumb, Syndactyly, Short phalanx of finger, Short thumb, Limb undergr... OMIM:263650
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Frontonasal Dysplasia 1
Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand polydactyly, Pectoral... OMIM:136760
3Mc Syndrome 3
Preaxial polydactyly, Clinodactyly, Facial cleft, Radioulnar synostosis OMIM:248340
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Pectoral muscle hypoplasia/aplasia, ... ORPHA:306542
Meckel Syndrome, Type 5
Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the long bones, Mi... OMIM:611561
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hip dislocation, Bilateral microphthalmos OMIM:608763
Microphthalmia With Limb Anomalies
True anophthalmia, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Microphth... ORPHA:1106
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Constricting Bands, Congenital
Talipes equinovarus, Syndactyly, Facial cleft, Hand polydactyly, Encephalocele OMIM:217100
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Microphthalmia ORPHA:1777
Curry-Jones Syndrome
Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad thumb, Microphthalmia, Foot polyda... ORPHA:1553
Isolated Arrhinia
Facial cleft, Microphthalmia ORPHA:1134
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Meckel Syndrome, Type 2
Anencephaly, Polydactyly, Postaxial hand polydactyly, Meningocele, Bowing of the long bones, Micr... OMIM:603194
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Seckel Syndrome 2
Heart murmur, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Trisomy 1Q
Arachnodactyly, Camptodactyly of finger, Anophthalmia, Preaxial hand polydactyly, Toe syndactyly ORPHA:261344
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Polydactyly, Microphthalmia OMIM:602501
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Orofaciodigital Syndrome Vi
Mesoaxial hand polydactyly, Postaxial polydactyly, Brachydactyly, Central Y-shaped metacarpal, Cl... OMIM:277170
Septooptic Dysplasia
Optic nerve hypoplasia, Polydactyly, Optic disc hypoplasia, Short finger OMIM:182230
Pierpont Syndrome
Short toe, Prominent fingertip pads, Deep palmar crease, Broad palm, Short foot, Microphthalmia, ... OMIM:602342
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Metap... OMIM:300863
Pierpont Syndrome
Short toe, Prominent fingertip pads, Deep palmar crease, Excessive wrinkling of palmar skin, Micr... ORPHA:487825
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Moebius Syndrome
Talipes equinovarus, Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Radial de... OMIM:157900
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, Microphthalmia, Proximal pla... ORPHA:93267
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Microphthalmia, 2-3 ... OMIM:260660
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Microphthalmia ORPHA:2117
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Curry-Jones Syndrome
Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of toes, Broad thumb, Microphthalm... OMIM:601707
Cofs Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:1466
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia OMIM:218670
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Abnormality of the humerus, Anophthalmia, Abnor... ORPHA:2538
Pelvis-Shoulder Dysplasia
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... OMIM:169550
Microphthalmia, Syndromic 8
Split foot, Microphthalmia OMIM:601349
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Talipes equinovarus, Tricuspid regurgitation, Mitral regurgitation, Camptodactyly of finger, Anop... ORPHA:1101
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
2-3 toe syndactyly, Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence... OMIM:618914
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Mend Syndrome
Overlapping toe, 2-3 toe syndactyly, Aortic valve stenosis, Overlapping fingers, Polydactyly, Lon... OMIM:300960
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Microphthalmia ORPHA:261272
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypoplastic iliac w... ORPHA:163966
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
2-3 toe syndactyly, Anophthalmia, 3-4 finger syndactyly, Rhizomelia, Microphthalmia OMIM:615877
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Camptodactyly, Microphthalmia OMIM:619694
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia OMIM:619981
Orofaciodigital Syndrome Xvii
Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polydactyly, Centra... OMIM:617926
Craniotelencephalic Dysplasia
Frontal encephalocele, Septo-optic dysplasia, Arrhinencephaly, Microphthalmia ORPHA:1528
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Fraser Syndrome 1
Myelomeningocele, Anophthalmia, Wide pubic symphysis, Facial cleft, Bilateral microphthalmos, Cut... OMIM:219000
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
14Q22Q23 Microdeletion Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Anophthalmia, Bilateral single transverse palm... ORPHA:264200
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Cat-Eye Syndrome
Hip dysplasia, Microphthalmia ORPHA:195
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Bartsocas-Papas Syndrome 2
Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Microphthalmia OMIM:619339
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Walker-Warburg Syndrome
Metatarsus valgus, Anophthalmia, Microphthalmia ORPHA:899
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Facial cleft, Microphthalmia ORPHA:861
Warburg Micro Syndrome 1
Overlapping toe, Microphthalmia OMIM:600118
Frontonasal Dysplasia 2
Encephalocele, Tessier number 13 facial cleft, Microphthalmia OMIM:613451
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Microphthalmia, Metaphyseal widening, Abnormal lower limb ... ORPHA:2788
3P25.3 Microdeletion Syndrome
Overlapping toe, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger syndactyly, Tapered finger,... ORPHA:435638
Lissencephaly 8
Occipital encephalocele, Talipes equinovarus, Microphthalmia OMIM:617255
Joubert Syndrome 14
Hypertension, Encephalocele, Postaxial polydactyly, Microphthalmia OMIM:614424
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Triopia
Encephalocele, Midline facial cleft ORPHA:3374
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Adducted thumb, Flared metaphysis, Camptodactyly of finger, Steep acetabu... OMIM:610758
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Absent toe, Brachydactyly, Abnormality of the upper ... ORPHA:974
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Microphthalmia ORPHA:48431
Bresek Syndrome
Postaxial hand polydactyly, Optic nerve hypoplasia, Neonatal death, Microphthalmia ORPHA:85284
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Slender finger, Wide proximal femoral metaphysis, Flattene... ORPHA:163649
Microgastria-Limb Reduction Defects Association
Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Hypopla... OMIM:156810
Martsolf Syndrome 1
Short toe, Talipes equinovarus, Short metacarpal, Slender ulna, Finger joint hypermobility, Avasc... OMIM:212720
Joubert Syndrome 18
Polydactyly, Camptodactyly OMIM:614815
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Brachydactyly, Polydactyly, Postaxial hand p... OMIM:615994
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Microphthalmia, Talipes equinovarus, Aplasia/Hy... OMIM:609945
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Dilated cardiomyopathy, Microphthalmia OMIM:618805
Focal Dermal Hypoplasia
Congenital hip dislocation, Umbilical hernia, Microphthalmia, Anophthalmia, Short phalanx of fing... OMIM:305600
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Arrhythmia, Synostosis of carpal bones, Microphthalmia ORPHA:3191
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Oculofaciocardiodental Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Flexion contracture of the 2nd toe, Flexion c... ORPHA:2712
Bardet-Biedl Syndrome 3
Brachydactyly, Tricuspid regurgitation, Postaxial polydactyly OMIM:600151
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Ring Chromosome 10 Syndrome
Sandal gap, Tapered finger, Microphthalmia ORPHA:1438
Nephronophthisis 15
Polydactyly OMIM:614845
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Micromelia, Oligo... OMIM:251230
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, E... OMIM:611134
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Joint contracture of the hand, Camptodactyly, Elbow flexion contracture, Rocker b... OMIM:214150
Congenital Fibrinogen Deficiency
Clubbing of fingers, Tachycardia, Internal hemorrhage, Microphthalmia ORPHA:335
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... ORPHA:959
Mosaic Trisomy 1
Long toe, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Camptodactyly of finger, Finger c... ORPHA:1692
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Camptodactyly, Postaxial hand po... OMIM:614175
Meckel Syndrome
Anophthalmia, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the ... ORPHA:564
Vacterl With Hydrocephalus
Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Microphthalmia, Hip dislocation, Spina b... ORPHA:3412
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly, Microphthalmia OMIM:614526
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Rocker bottom foot, Microphthalmia OMIM:610756
Au-Kline Syndrome
Overlapping toe, Deep palmar crease, Hip dysplasia, Postaxial polydactyly OMIM:616580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cerebrooculonasal Syndrome
Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Postaxial hand polydactyly, Encephal... OMIM:605627
Refsum Disease
Short metacarpal, Hammertoe, Abnormal epiphysis morphology, Microphthalmia, Heart block, Cardiomy... ORPHA:773
Pelvis-Shoulder Dysplasia
Dislocated radial head, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Camptodactyly of f... ORPHA:2839
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar eminence, Short humer... OMIM:607323
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand polydactyly, ... OMIM:258860
Adams-Oliver Syndrome 2
Single transverse palmar crease, Microphthalmia OMIM:614219
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Fanconi Anemia, Complementation Group S
Proximal placement of thumb, Clinodactyly, Microphthalmia OMIM:617883
Holoprosencephaly
Brachydactyly, Anophthalmia, Arrhythmia, Spinal dysraphism, Branchial anomaly, Microphthalmia, Ha... ORPHA:2162
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Meckel Syndrome 14
Tricuspid regurgitation, Postaxial polydactyly, Mitral regurgitation, Syndactyly, Postaxial hand ... OMIM:619879
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint of the 3rd toe, 2... OMIM:300166
Sandestig-Stefanova Syndrome
Microphthalmia, Bilateral single transverse palmar creases, Camptodactyly, Clinodactyly, Rocker b... OMIM:618804
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Acromelic Frontonasal Dysostosis
Talipes equinovarus, Preaxial polydactyly, Syndactyly, Polydactyly, Encephalocele OMIM:603671
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Gracile Bone Dysplasia
Flared metaphysis, Brachydactyly, Slender long bone, Microphthalmia, Aniridia OMIM:602361
Joubert Syndrome 23
Polydactyly OMIM:616490
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Micromelia, Polydactyly, Brachydactyly, Sy... OMIM:614091
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Short long bone, Postaxial polydactyly OMIM:615633
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Hypoplasia of the ulna, ... OMIM:619135
Monosomy 18P
Hypertension, Brachydactyly, Microphthalmia ORPHA:1598
2Q31.1 Microdeletion Syndrome
Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Broad hallux phalanx, ... ORPHA:251014
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Mitral regurgitation, Postaxial polydactyly OMIM:603387
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the ulna, Aplasia of the 1st metaca... ORPHA:1352
Joubert Syndrome 37
Postaxial polydactyly, Microphthalmia OMIM:619185
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Tricuspid regurgitation, Microphthalmia OMIM:618652
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Occipital encephalocele, Postaxial foot polydactyly, Polydactyly OMIM:607361
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... OMIM:618142
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Tapered finger, Macular hypoplasia OMIM:613792
Microphthalmia, Syndromic 9
Pulmonic stenosis, Anophthalmia, Bilateral microphthalmos OMIM:601186
Subaortic Stenosis--Short Stature Syndrome
Short toe, Small hand, Broad finger, Short phalanx of finger, Short foot, Microphthalmia, Short p... OMIM:271960
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Postaxial polydactyly, Broad distal phalanx of finger, Postaxial foot polydac... ORPHA:404440
20P13 Microdeletion Syndrome
Clinodactyly, Brachydactyly, Polydactyly, Finger syndactyly ORPHA:313781
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Stevenson-Carey Syndrome
Hip dysplasia, Joint contracture of the hand, Camptodactyly, Microphthalmia OMIM:611961
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Talipes equinovarus, Distally placed thumb, Pulmonic stenosis, Small thenar emin... OMIM:619148
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial polydactyly, Arachnodactyly, ... OMIM:619721
Cockayne Syndrome Type 1
Hypertension, Anophthalmia ORPHA:90321
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the ulna, Aplasia of the 1st metaca... OMIM:600123
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Abnormal pelvis bone ossification, Postaxial hand polydactyly, Facial cleft, Short fo... ORPHA:93271
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Postaxial polydactyly OMIM:617757
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal... OMIM:169400
Kapur-Toriello Syndrome
Clinodactyly of the 5th toe, Joint contracture of the hand, Camptodactyly of finger, Overlapping ... OMIM:244300
Roberts Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Hypopl... ORPHA:3103
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
3-4 toe syndactyly, Brachydactyly, Broad hallux, Sandal gap, Clinodactyly, Microphthalmia OMIM:618727
Joubert Syndrome 15
Polydactyly OMIM:614464
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Hypertrophic cardiomyopathy, Microphthalmia OMIM:619053
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Corneal neovascularization, Hypoplasia of the fovea, Bilateral microphth... ORPHA:2334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Skin Creases, Congenital Symmetric Circumferential, 2
Short palm, Long fingers, Tapered finger, Microphthalmia OMIM:616734
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Optic nerve hypoplasia, Short 1st metacarpal, Microphthal... OMIM:609053
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Polydactyly, Short long bone OMIM:613819
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Syndactyly, Polydactyly, Short 5th finger, Small pl... ORPHA:397590
Joubert Syndrome 7
Postaxial hand polydactyly, Encephalocele, Genu valgum, Postaxial polydactyly OMIM:611560
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Micromelia, Brach... OMIM:617866
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... OMIM:613091
Focal Dermal Hypoplasia
Telangiectasia of the skin, Short clavicles, Abnormal palmar dermatoglyphics, Split foot, Hand po... ORPHA:2092
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Brachydactyly, Micromelia, Syn... OMIM:617895
Myoclonic-Astatic Epilepsy
Syndactyly, Microphthalmia ORPHA:1942
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Baraitser-Winter Syndrome 1
Duplication of phalanx of hallux, Aortic valve stenosis, Microphthalmia OMIM:243310
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping toe, 2-3 toe syndactyly, Adducted thumb, Deviation of the 2nd finger, Contracture of ... ORPHA:464738
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia OMIM:193220
Frontorhiny
Basal encephalocele, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Cranium bifidum... ORPHA:391474
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia OMIM:206900
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia OMIM:615636
Endocrine-Cerebroosteodysplasia
Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micromelia, Polydactyly... OMIM:612651
Rhombencephalosynapsis
Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Septo-optic dysplasi... ORPHA:59315
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Pallister-Hall Syndrome
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Syndactyly, N... OMIM:146510
Holoprosencephaly 1
Facial cleft, Microphthalmia OMIM:236100
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Clinodactyly of the 5th finger, Abnormality of the hand, Anophthalm... OMIM:607932
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
1Q21.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Broad hallux phalanx, Broad thumb, Short foo... ORPHA:250989
Marden-Walker Syndrome
Talipes equinovarus, Joint contracture of the hand, Arachnodactyly, Radioulnar synostosis, Campto... OMIM:248700
Oculodentodigital Dysplasia, Autosomal Recessive
Small hand, 4-5 finger syndactyly, 2-4 toe cutaneous syndactyly, Short foot, Microphthalmia, Broa... OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Holoprosencephaly 9
Postaxial hand polydactyly, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Clinodactyly, Brachydactyly, Polydactyly OMIM:618950
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Chondrodysplasia Punctata 2, X-Linked Dominant
Stippled calcification in carpal bones, Bilateral talipes equinovarus, Postaxial polydactyly, Hem... OMIM:302960
Teebi-Shaltout Syndrome
Ulnar deviation of the hand, Aortic valve stenosis, Talipes equinovarus, Microphthalmia, Syndacty... OMIM:272950
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Cohen Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Narrow palm, Tapere... ORPHA:193
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
3Q29 Microduplication Syndrome
Camptodactyly of toe, Sandal gap, Microphthalmia, Aniridia, Toe syndactyly ORPHA:251038
Nance-Horan Syndrome
Broad finger, Short phalanx of finger, Microphthalmia OMIM:302350
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Abnormal palmar dermatoglyphics, Microphthalmia ORPHA:2728
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Congenital Sialidosis Type 2
Polydactyly, Hypoplasia of the fovea, Abnormal EKG, Umbilical hernia, Telangiectasia ORPHA:93400
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization, Microphthalmia ORPHA:891
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Upper limb asymmetry, Congestive heart failure, Microphthalmia ORPHA:2505
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Intellectual Developmental Disorder, Autosomal Dominant 36
Broad hallux, Deviation of the 5th finger, Hip dysplasia, Postaxial polydactyly OMIM:616362
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Syndactyly, Camptodactyly, Clinodactyly, Bilateral microphthalmos, Umbil... ORPHA:369891
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Encephalocele, Hypoplastic pelvis, Rhizomelia, Micro... OMIM:616300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... OMIM:615503
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Cardiomyopathy, Microphthalmia ORPHA:370959
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Polydactyly OMIM:616629
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Mitral regurgitation, Anophthalmia, Arrhythmia, Dilated cardiomyopathy, ... ORPHA:2556
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Hand clenching, Microphthalmia OMIM:616920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Chromosome 1Q41-Q42 Deletion Syndrome
3-4 finger cutaneous syndactyly, Sandal gap, Talipes equinovarus, Microphthalmia OMIM:612530
Exudative Vitreoretinopathy 2, X-Linked
Retinal neovascularization, Microphthalmia OMIM:305390
Incontinentia Pigmenti
Telangiectasia of the skin, Absent hand, Camptodactyly of finger, Retinal hemorrhage, Cerebral is... ORPHA:464
Oculodentodigital Dysplasia
3-4 toe syndactyly, Arrhythmia, 4-5 finger syndactyly, Joint contracture of the 5th finger, Cubit... OMIM:164200
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia OMIM:614222
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Overlapping toe, Broad phalanx, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Optic nerve h... ORPHA:508498
Microphthalmia, Lenz Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormal shoulder morphology, Complete d... ORPHA:568
Charge Syndrome
Absent tibia, Abnormal palmar dermatoglyphics, Bilateral talipes equinovarus, Pulmonic stenosis, ... OMIM:214800
Tarp Syndrome
Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Deep palmar ... OMIM:311900
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... ORPHA:3472
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia ORPHA:228390
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Bilateral microphthalmos OMIM:600122
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
X-Linked Dominant Chondrodysplasia Punctata
Talipes equinovarus, Neonatal epiphyseal stippling, Upper limb asymmetry, Microphthalmia, Hip dis... ORPHA:35173
Charge Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Anophthalmia, Abnormality of tibia morphology, Bif... ORPHA:138
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia, Encep... OMIM:264480
Fraser Syndrome
Myelomeningocele, Anophthalmia, Wide pubic symphysis, Umbilical hernia, Microphthalmia, Encephalo... ORPHA:2052
Rere-Related Neurodevelopmental Syndrome
Hip dysplasia, Microphthalmia ORPHA:494344
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Basal Cell Nevus Syndrome
Short distal phalanx of the thumb, Irregular ossification of hand bones, Down-sloping shoulders, ... OMIM:109400
Warburg Micro Syndrome 2
Overlapping toe, Microphthalmia OMIM:614225
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Abnormal metacarpal morphology, Absent palmar crease, Microphthalmia, Fi... ORPHA:284160
Otopalatodigital Syndrome Type 2
Myelomeningocele, Carpal synostosis, Flared iliac wing, Encephalocele, Preaxial polydactyly, Camp... ORPHA:90652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Tapered finger, Microphthalmia ORPHA:65286
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short tibia, Hypoplast... OMIM:617925
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Camptodactyly, Absent palmar crease, Microphthalmia, Short metacarpal OMIM:614230
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Mend Syndrome
Overlapping toe, 2-3 toe syndactyly, Aortic valve stenosis, Overlapping fingers, Long fingers, Br... ORPHA:401973
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Stromme Syndrome
Preaxial polydactyly, Optic nerve hypoplasia, Stillbirth, Microphthalmia OMIM:243605
Galloway-Mowat Syndrome 3
Arachnodactyly, Camptodactyly, Microphthalmia, Hypertension, Hip dislocation OMIM:617729
Histiocytoid Cardiomyopathy
Congenital aphakia, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Ju... ORPHA:137675
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Rodrigues Blindness
Microphthalmia OMIM:268320
Neu-Laxova Syndrome 1
Microphthalmia, Joint contracture of the hand, Short umbilical cord, Micromelia, Camptodactyly, L... OMIM:256520
Fanconi Anemia, Complementation Group F
Absent thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia, Short thumb OMIM:603467
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Microphthalmia OMIM:618571
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia OMIM:156610
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius OMIM:600901
Trisomy 18
Abnormal hip bone morphology, Camptodactyly of finger, Bilateral single transverse palmar creases... ORPHA:3380
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Finger clinodactyly, Brachydactyly, Syndactyly, Mesoaxial polydactyly, Cent... ORPHA:2754
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia of the ulna, Phocomelia, Microph... ORPHA:3186
Myhre Syndrome
Overlapping toe, Short toe, 2-3 toe syndactyly, Aortic valve stenosis, Cone-shaped epiphysis, Bra... OMIM:139210
Branchiooculofacial Syndrome
Clinodactyly of the 5th finger, Anophthalmia, Short thumb, Single transverse palmar crease, Elbow... OMIM:113620
Steinfeld Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Microphthalmia, Aplasia/Hypoplasia ... OMIM:184705
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius OMIM:227650
Bardet-Biedl Syndrome 1
Postaxial polydactyly, Brachydactyly, Syndactyly, Postaxial hand polydactyly, Postaxial foot poly... OMIM:209900
Joubert Syndrome 2
Postaxial hand polydactyly, Encephalocele, Postaxial foot polydactyly, Microphthalmia OMIM:608091
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Microphthalmia, Short metacarpal, Acetabular dysplasia OMIM:201180
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia, Hemorrhage of the eye ORPHA:91495
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Galloway-Mowat Syndrome 1
Talipes equinovarus, Slender finger, Joint contracture of the hand, Camptodactyly, Hypoplasia of ... OMIM:251300
Adams-Oliver Syndrome 1
Aortic valve stenosis, Talipes equinovarus, Pulmonic stenosis, Brachydactyly, Microphthalmia, Hyp... OMIM:100300
Fanconi Anemia, Complementation Group D2
Microphthalmia, Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb, C... OMIM:227646
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Hyphema, Phthisis bulbi, Microphthalmia OMIM:221900
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Rothmund-Thomson Syndrome, Type 2
Short palm, Talipes equinovarus, Small hand, Congenital hip dislocation, Short foot, Microphthalm... OMIM:268400
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Fanconi Anemia
Spina bifida, Abnormality of femur morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the... ORPHA:84
Momo Syndrome
Short sternum, Femoral bowing, Large hands, Bilateral microphthalmos, Congenital pseudoarthrosis ... ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Encephalocele, Adducted thumb, Microphthalmia OMIM:614643
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Aplasia/Hypoplasia involving the pelvis, Microphthalmia ORPHA:3301
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Postaxial polydactyly, Abnormal 5th metacarpal morphology, Cone-shaped... ORPHA:397715
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Oculo-Palato-Cerebral Syndrome
Small hand, Short foot, Microphthalmia ORPHA:2714
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Brachydactyly, Aplasia of the distal phalanx of the... ORPHA:364577
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Postaxial polydactyly OMIM:614576
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Khan-Khan-Katsanis Syndrome
Buphthalmos, Clinodactyly, Tricuspid regurgitation, Postaxial polydactyly OMIM:618460
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius OMIM:227645
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Telangiectasia, Microphthalmia OMIM:278730
Meckel Syndrome, Type 1
Postaxial polydactyly, Camptodactyly of finger, Syndactyly, Anencephaly, Postaxial hand polydacty... OMIM:249000
Hallermann-Streiff Syndrome
Abnormality of the hand, Metaphyseal widening, Slender long bone, Microphthalmia, Hypertension, T... OMIM:234100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Monosomy 13Q14
Clinodactyly of the 5th finger, Brachydactyly, Microphthalmia, Aplasia/Hypoplasia of the thumb, F... ORPHA:1587
Osteoporosis-Pseudoglioma Syndrome
Metaphyseal widening, Phthisis bulbi, Microphthalmia OMIM:259770
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Microphthalmia, Syndromic 1
Short clavicles, Abnormal palmar dermatoglyphics, Joint contracture of the hand, Prominent finger... OMIM:309800
Hydrolethalus Syndrome 1
Talipes equinovarus, Proximal tibial hypoplasia, Anencephaly, Upper limb undergrowth, Arrhinencep... OMIM:236680
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Adnp Syndrome
Abnormality of finger, 2-3 toe syndactyly, Abnormality of toe, Brachydactyly, Polydactyly, Single... ORPHA:404448
Monosomy 9Q22.3
Palmar pits, Polydactyly, Umbilical hernia, Microphthalmia ORPHA:77301
Pseudoaminopterin Syndrome
Overlapping toe, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyly, Clinodactyly... ORPHA:221120
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Adducted thumb OMIM:618874
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Hallermann-Streiff Syndrome
Clinodactyly of the 5th finger, Small hand, Short foot, Microphthalmia, Congestive heart failure ORPHA:2108
Craniofacial Microsomia
Transverse facial cleft, Partial duplication of thumb phalanx, Anophthalmia, Genu valgum, Branchi... OMIM:164210
Fryns Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microphthalmia ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pulmonic stenosis, Encephalocele, Dilated cardiomyopathy, Microphthalmia OMIM:253800
Orofaciodigital Syndrome I
Myelomeningocele, Brachydactyly, Polydactyly, Syndactyly, Clinodactyly, Radial deviation of finge... OMIM:311200
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Small hand, Tapered finger, Short foot, Hip dislocation, Hip dysplasia OMIM:300968
Tarp Syndrome
Hypoplasia of proximal radius, Short sternum, Talipes equinovarus, Postaxial polydactyly, Single ... ORPHA:2886
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Cat Eye Syndrome
Pulmonic stenosis, Umbilical hernia, Absent radius, Microphthalmia OMIM:115470
Fryns Syndrome
Short distal phalanx of finger, Microphthalmia, Joint contracture of the hand, Prominent fingerti... OMIM:229850
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Small hand, Tapered finger, Portal hypertension, Microphthalmia, Pulmonary arterial hypertension,... OMIM:620005
Meier-Gorlin Syndrome 7
Bowing of the legs, 2-3 toe syndactyly, Preaxial polydactyly, Aplasia/Hypoplasia of the patella, ... OMIM:617063
Dyrk1A-Related Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Aortic valve stenosis, Arachnodactyly, Polydactyly, Aortic regurg... ORPHA:464306
Pierson Syndrome
Microphthalmia, Retinal hemorrhage, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the cil... OMIM:609049
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Microphthalmia OMIM:601675
Miller-Dieker Lissencephaly Syndrome
Clinodactyly of the 5th finger, Joint contracture of the hand, Deep palmar crease, Polydactyly, C... OMIM:247200
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Sandal gap, Postaxial foot polydactyly, Postaxial polydactyly OMIM:174300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Cubitus valgus, Arachnodactyly, Microphthalmia OMIM:601552
Micro Syndrome
Microphthalmia ORPHA:2510
Dubowitz Syndrome
Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease, Hypoplasia of the ir... OMIM:223370
Jacobsen Syndrome
Macular hypoplasia, Clinodactyly of the 5th finger, Brachydactyly, Microphthalmia OMIM:147791
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Abnormality of the medullary cavity of the long bones, Microphtha... OMIM:127000
Pallister-Hall Syndrome
Polydactyly affecting the 3rd finger, Overlapping toe, Bilateral postaxial polydactyly, Radial bo... ORPHA:672
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Anencephaly, Micromelia, Aplastic clavicle OMIM:616546
Cranioectodermal Dysplasia 3
Brachydactyly, Syndactyly, Sandal gap, Postaxial polydactyly OMIM:614099
Legius Syndrome
Pulmonic stenosis, Clinodactyly of the 5th finger, Paroxysmal atrial tachycardia, Polydactyly ORPHA:137605
Kinsship Syndrome
Dislocated radial head, Polydactyly, Single transverse palmar crease, Mesomelia, Fibular hypoplas... OMIM:619297
Bardet-Biedl Syndrome 20
Postaxial hand polydactyly, Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Clinodactyly of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Aplasia of the dist... OMIM:608670
Fanconi Anemia, Complementation Group L
Absent radius, Bilateral talipes equinovarus, Absent thumb, Microphthalmia OMIM:614083
Cockayne Syndrome B
Ivory epiphyses of the phalanges of the hand, Arrhythmia, Square pelvis bone, Hypoplastic pelvis,... OMIM:133540
Rubinstein-Taybi Syndrome 1
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Flared iliac wing, P... OMIM:180849
Degcags Syndrome
Talipes equinovarus, Pulmonic stenosis, Tachycardia, Syndactyly, Polydactyly, Short thumb, Genu v... OMIM:619488
Holoprosencephaly-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Encephalocele, Umbilical hernia, Microphthalmia ORPHA:2166
Papillorenal Syndrome
Hypertension, Microphthalmia OMIM:120330
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Clinodactyly of the 5th finger, Single transverse palmar crease, Umbilical herni... OMIM:613884
Cranioectodermal Dysplasia 2
Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Clinod... OMIM:613610
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Spina bifida occulta, Macular hypoplasia OMIM:612109
22Q11.2 Deletion Syndrome