Gene Summary

Name:
centrosomal protein 135
Synonyms:
LOC381644,  Cep4

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 Cep135em1(IMPC)J HOM E12.5 0.00
polydactyly Cep135em1(IMPC)J HOM E15.5 0.00
edema Cep135em1(IMPC)J HOM E15.5 0.00
abnormal lens morphology Cep135em1(IMPC)J HET   Late adult 6.62×10-05
abnormal craniofacial morphology Cep135em1(IMPC)J HOM E15.5 0.00
facial cleft Cep135em1(IMPC)J HOM E12.5 0.00
decreased bone mineral density Cep135em1(IMPC)J HET Early adult 2.38×10-05
abnormal head shape Cep135em1(IMPC)J HOM E15.5 0.00
preweaning lethality, complete penetrance Cep135em1(IMPC)J HOM   Early adult 0.00
increased exploration in new environment Cep135em1(IMPC)J HET   Late adult 4.74×10-05
anophthalmia Cep135em1(IMPC)J HOM E15.5 0.00
cataract Cep135em1(IMPC)J HET Early adult 2.51×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Gross Morphology Embryo E12.5

Images

3 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

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

9 Images

Human diseases caused by Cep135 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 Cep135 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Microcephaly 8, Primary, Autosomal Recessive
OMIM:614673

The table below shows human diseases predicted to be associated to Cep135 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Facial cleft OMIM:600776
Aniridia 3
Cataract OMIM:617142
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Frontonasal Dysplasia 3
Microphthalmia, Brachycephaly, Facial cleft OMIM:613456
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trichomegaly
Cataract OMIM:190330
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Frontal bossing, Bilateral micropht... OMIM:607597
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Oxycephaly, Ulnar deviation of the hand or of fingers... OMIM:201020
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Edema, Microphthalmia OMIM:616570
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Facial cleft ORPHA:66625
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Meckel Syndrome, Type 8
Anophthalmia, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Talipes equinovarus OMIM:613885
Oculomaxillofacial Dysostosis
Brachydactyly, Aplasia/Hypoplasia affecting the eye, Adducted thumb, Camptodactyly of finger, Abn... ORPHA:1794
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Microphthalmia With Limb Anomalies
Toe syndactyly, Anophthalmia, Single transverse palmar crease, Hand oligodactyly, Postaxial foot ... OMIM:206920
Nathalie Syndrome
Cataract ORPHA:2663
Anophthalmia Plus Syndrome
Anophthalmia, Deviation of finger, Facial cleft ORPHA:1104
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Galactosemia Iv
Cataract OMIM:618881
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormality of calvarial morphology, Abnormality of the fontanelles or cranial su... ORPHA:2432
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Nanophthalmos 4
Microphthalmia OMIM:615972
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Facial Clefting, Oblique, 1
Deep palmar crease, Facial cleft OMIM:600251
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Prominent metopic ridge, Brachycephaly, Trigonocephaly, Broad phalanx, Broad metatarsal OMIM:275595
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Overlapping fingers, Postaxial hand polydactyly, Small hand, Faci... ORPHA:952
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
X-Linked Retinoschisis
Cataract ORPHA:792
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Osteoporosis
Osteoporosis OMIM:166710
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Frontofacionasal Dysplasia
Microphthalmia, Facial cleft, Brachycephaly, Midface retrusion ORPHA:1791
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Cataract 47
Microcornea, Cataract OMIM:612018
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Mosaic Trisomy 9
Prominent occiput, Biparietal narrowing, Rocker bottom foot, Hydrops fetalis, Elbow dislocation, ... ORPHA:99776
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tapered finger, Microphthalmia, Frontal bossing, Brachycephaly, Broad thumb, Camptodactyly of fin... ORPHA:1236
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Fibular Hemimelia
Fibular hypoplasia, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia of the hip, G... ORPHA:93323
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Galactosemia Ii
Cataract OMIM:230200
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Split foot ORPHA:3434
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Po... ORPHA:65759
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Aniridia 2
Cataract, Aniridia OMIM:617141
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Supernumerary Nostril
Facial cleft ORPHA:141096
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis, Brachycephaly, Midface retrusion ORPHA:35099
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Oculocerebrocutaneous Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Congenital hip disloca... ORPHA:1647
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Facial cleft OMIM:601357
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Short 5th finger, 2-3 toe syndactyly, Facial cleft OMIM:239800
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Microphthalmia, Syndactyly OMIM:610023
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Triopia
Dolichocephaly, Midline facial cleft, Abnormality of the fontanelles or cranial sutures, Frontal ... ORPHA:3374
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Abnormality of epiphysis morphology, Rhizomelia, Cloverleaf skull, Fron... ORPHA:93267
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Trisomy 13
Abnormality of pelvic girdle bone morphology, Anophthalmia, Hydrops fetalis, Abnormality of the f... ORPHA:3378
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Microphthalmia, Frontal bossing, Polyhydramnio... ORPHA:2547
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Congenital hip dislocation OMIM:164180
Craniosynostosis And Dental Anomalies
Clinodactyly, Lambdoidal craniosynostosis, Craniosynostosis, 2-3 toe syndactyly, Dolichocephaly, ... OMIM:614188
Kahrizi Syndrome
Elbow flexion contracture, Cataract, Iris coloboma, Knee flexion contracture OMIM:612713
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Brachycephaly ORPHA:2528
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers, Hand cl... ORPHA:1617
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Arthrogryposis multiplex congenita OMIM:212540
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Trisomy 1Q
Toe syndactyly, Anophthalmia, Hydrops fetalis, Arachnodactyly, Frontal bossing, Preaxial hand pol... ORPHA:261344
Anencephaly 2
Anophthalmia OMIM:619452
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Short palm, Hydrops fetalis, Microphthalmia, Facial cleft ORPHA:268249
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Nanophthalmos
Microphthalmia ORPHA:35612
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Acrofacial Dysostosis, Catania Type
Brachydactyly, Finger syndactyly, Short palm, Clinodactyly of the 5th finger, Small hand, Bilater... ORPHA:1786
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Intellectual Disability-Cataracts-Kyphosis Syndrome
Elbow flexion contracture, Cataract, Iris coloboma, Knee flexion contracture ORPHA:171860
Congenital Varicella Syndrome
Micromelia, Microphthalmia ORPHA:291
Curry-Jones Syndrome
Toe syndactyly, Craniosynostosis, Foot polydactyly, Finger syndactyly, Microphthalmia, Preaxial h... ORPHA:1553
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Cataract, Increased bone density with cystic cha... OMIM:136300
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Microphthalmia, Proximal placement o... ORPHA:139471
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Temtamy Syndrome
Brachydactyly, Genu varum, Dolichocephaly, Clinodactyly of the 5th finger, Microphthalmia, Short toe ORPHA:1777
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Rhizomelic arm shortening, Abnormally large globe, Polyhydramnios, Abnor... ORPHA:96190
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Plagiocephaly, Frontal bossing, Brachycephaly OMIM:300064
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Abnormal morphology of the radius ORPHA:3469
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Bardet-Biedl Syndrome 7
Clinodactyly, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly OMIM:615984
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hydrolethalus
Anophthalmia, Micromelia, Microphthalmia, Polyhydramnios, Postaxial hand polydactyly ORPHA:2189
Nathalie Syndrome
Cataract OMIM:255990
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Microphthalmia, Hypop... OMIM:300863
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Hypergonadotropic Hypogonadism-Cataract Syndrome
Reduced bone mineral density, Cataract, Osteoporosis, Recurrent fractures ORPHA:2410
Summitt Syndrome
Brachydactyly, Plagiocephaly, Craniosynostosis, Finger syndactyly, Short palm, Short 4th metacarp... ORPHA:3210
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Dolichocephaly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Sh... OMIM:617102
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Brachydactyly, Pectoral muscle hypoplasia/aplasia, Microphthalmia, Hypoplasia of the frontal bone... ORPHA:306542
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Decreased movement range in interphalangeal joints OMIM:609115
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Craniosynostosis, Oligodactyly, Arachnodactyly, Brachycephaly, Humeroradial synostosis OMIM:614416
Muenke Syndrome
Brachydactyly, Clinodactyly, Plagiocephaly, Thimble-shaped middle phalanges of hand, Coronal cran... OMIM:602849
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Bartsocas-Papas Syndrome 2
Prominent occiput, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Smal... OMIM:619339
Craniosynostosis 2
Brachydactyly, Craniosynostosis, Triphalangeal thumb, Frontal bossing, Turricephaly, Unicoronal s... OMIM:604757
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract OMIM:614876
Jackson-Weiss Syndrome
Craniosynostosis, 2-3 toe syndactyly, Broad hallux, Midface retrusion, Calcaneonavicular fusion, ... OMIM:123150
Pierpont Syndrome
Short palm, Broad palm, Midface retrusion, Microphthalmia, Deep palmar crease, Short finger, Shor... OMIM:602342
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Abnormality of cranial sutures, Coxa valga, Anterior plagioc... ORPHA:163649
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, 2-3 toe syndactyly, Abnormalit... ORPHA:1540
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology OMIM:614082
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
17Q12 Microduplication Syndrome
Microphthalmia, Toe syndactyly, Polyhydramnios, Finger syndactyly ORPHA:261272
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Short ... ORPHA:1106
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Hip dislocation OMIM:608763
Curry-Jones Syndrome
Craniosynostosis, Microphthalmia, Duplication of thumb phalanx, Preaxial hand polydactyly, Broad ... OMIM:601707
Joubert Syndrome 22
Microphthalmia, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe syndactyly OMIM:615665
Meckel Syndrome, Type 11
Oligohydramnios, Polydactyly OMIM:615397
Pierpont Syndrome
Microphthalmia, Deep palmar crease, Short finger, Excessive wrinkling of palmar skin, Short toe, ... ORPHA:487825
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Isolated Arrhinia
Microphthalmia, Facial cleft ORPHA:1134
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Flat occiput, Large ... ORPHA:2511
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Facial cleft OMIM:248340
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Generalized osteoporosis, Ocular albinism, Osteoporosis OMIM:601220
Potocki-Shaffer Syndrome
Brachydactyly, 2-5 finger cutaneous syndactyly, Wormian bones, Single transverse palmar crease, T... OMIM:601224
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Micromelia, Thin calvarium, Limb undergrowth, Brachycephaly, Massively thickened l... OMIM:122900
Hartsfield Syndrome
Microphthalmia, Split hand, Craniosynostosis, Aplasia/Hypoplasia of the radius ORPHA:2117
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Microphthalmia, Hypoplastic iliac wing, Fro... ORPHA:163966
Craniotelencephalic Dysplasia
Microphthalmia, Frontal bossing, Craniosynostosis, Septo-optic dysplasia ORPHA:1528
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb, Midface retrusion ORPHA:435804
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Short toe, Metaphyseal widening, Brachy... OMIM:250215
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, Rocker bottom foot, ... OMIM:214150
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Bartsocas-Papas Syndrome 1
Absent thumb, Absent palmar crease, Absent radius, Short metacarpal, Short phalanx of finger, Sho... OMIM:263650
Cofs Syndrome
Microphthalmia, Camptodactyly of finger, Prominent metopic ridge ORPHA:1466
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia OMIM:611561
Stiff Skin Syndrome
Elbow flexion contracture, Cataract, Knee flexion contracture, Camptodactyly, Limited shoulder mo... OMIM:184900
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Bardet-Biedl Syndrome 8
Brachycephaly, Polydactyly OMIM:615985
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Retinitis Pigmentosa 84
Cataract OMIM:618220
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cerebrooculonasal Syndrome
Craniosynostosis, Anophthalmia, Frontal bossing, Postaxial hand polydactyly, Proboscis, Brachycep... OMIM:605627
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Tapered finger, Plagiocephaly, Syndactyly OMIM:618725
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Anophthalmia, Phocomelia, Aplastic clavicle, Oligodactyly, Short thumb, Elbow disl... ORPHA:2538
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent radius, Oligodactyly, Micromelia, Microphthalmia, Short tibia, Humerorad... OMIM:251230
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Septooptic Dysplasia
Optic nerve hypoplasia, Short finger, Optic disc hypoplasia, Polydactyly OMIM:182230
Osteoporosis-Pseudoglioma Syndrome
Wormian bones, Abnormal lower limb bone morphology, Crumpled long bones, Microphthalmia, Frontal ... ORPHA:2788
Constricting Bands, Congenital
Talipes equinovarus, Facial cleft, Hand polydactyly, Syndactyly OMIM:217100
Mend Syndrome
2-3 toe syndactyly, Overlapping fingers, Polydactyly, Midface retrusion, Long fingers, Overlappin... OMIM:300960
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Pectoral muscle hypoplasia/aplasia, Microphthalmia, Postaxial hand p... OMIM:136760
Craniotelencephalic Dysplasia
Microphthalmia, Craniosynostosis, Optic nerve hypoplasia OMIM:218670
Non-Distal Trisomy 10Q
Frontal bossing, Aplasia/Hypoplasia affecting the eye, Brachycephaly ORPHA:1695
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Anophthalmia, Short 5th metacarpal, Finger syndactyly, Short palm, Short 4th meta... ORPHA:264200
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short phalanx of finge... OMIM:157900
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Prominent metopic ridge, Partial duplication of thumb ... OMIM:617926
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Anophthalmia, Dolichocephaly, Aniridia, Ulnar deviation of finger, Camptodactyly o... ORPHA:1101
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Delayed vertebral ossification, Cataract, Delay... ORPHA:93296
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Microphthalmia OMIM:615877
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Bardet-Biedl Syndrome 4
Brachydactyly, Syndactyly, Polydactyly OMIM:615982
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Syndactyly, Polydactyly OMIM:602501
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia, Polydactyly OMIM:603194
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Finger syndactyly, Short palm, Aplasia/Hypoplasia of the th... ORPHA:93258
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Retinitis Pigmentosa 40
Cataract OMIM:613801
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Mosaic Trisomy 1
Toe syndactyly, Broad toe, Single transverse palmar crease, Absent distal interphalangeal creases... ORPHA:1692
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial hand polydacty... OMIM:277170
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Midface retrusion ORPHA:1135
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Delayed ossification of carpal bones, Joint stiffness OMIM:127200
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Treacher-Collins Syndrome
Midface retrusion, Microphthalmia, Frontal bossing, Brachycephaly, Facial cleft ORPHA:861
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Oligohydramnios, Micromelia, Turricephaly, Br... ORPHA:2145
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Microphthalmia, Frontal bossing, Brachycephaly, Oligohydramnios, Calvar... ORPHA:228390
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Bowing of the long bones, Brachydactyly, Short long bone, Dolichocephaly, Ascites, Hydrops fetali... OMIM:614091
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Chromosome 3Pter-P25 Deletion Syndrome
Trigonocephaly, Postaxial polydactyly, Tapered finger, Brachycephaly, Flat occiput, Prominent met... OMIM:613792
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Rocker bottom foot, Steep acetabular roof, Flared metaphysis, Adducted th... OMIM:610758
Ring Chromosome 10 Syndrome
Microphthalmia, Sandal gap, Tapered finger, Frontal bossing ORPHA:1438
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Frontal bossing, Talipes equinovarus OMIM:612530
Joubert Syndrome 10
Frontal bossing, Postaxial polydactyly OMIM:300804
Cousin Syndrome
Hypoplastic ischia, Toe syndactyly, Hypoplastic pubic bone, 4-5 toe syndactyly, 2-3 toe syndactyl... OMIM:260660
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Pellagra-Like Syndrome
Cataract OMIM:260650
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Plagiocephaly, Craniosynostosis, Finge... ORPHA:1520
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Au-Kline Syndrome
Craniosynostosis, Dolichocephaly, Deep palmar crease, Postaxial polydactyly, Hip dysplasia, Overl... OMIM:616580
Microphthalmia, Syndromic 8
Microphthalmia, Split foot OMIM:601349
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Syndactyly, Short thumb, Arachnodactyly, Frontal bossing, Rudimentar... OMIM:600325
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Thickened calvaria, Brachycephaly ORPHA:178377
Bardet-Biedl Syndrome 9
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... OMIM:615986
Pentasomy X
Plagiocephaly, Clinodactyly of the 5th finger, Radioulnar synostosis, Small hand, Camptodactyly o... ORPHA:11
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Brachycephaly, Flat occiput ORPHA:2898
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Delayed closure of the anterior fontanelle, Clinodactyly of the 5th finger, Upper limb asymmetry,... ORPHA:231140
Fraser Syndrome 1
Anophthalmia, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the phalanges of the hand, B... OMIM:219000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Prominent occiput, Dolichocephaly, Hypoplasia of the radius, Midface retrusion, Mi... OMIM:617895
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
3P25.3 Microdeletion Syndrome
Acromesomelia, Congenital pseudoarthrosis of the clavicle, Tapered finger, Broad hallux, Micropht... ORPHA:435638
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
Holoprosencephaly 1
Microphthalmia, Proboscis, Facial cleft, Midface retrusion OMIM:236100
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Martsolf Syndrome 2
Camptodactyly, Camptodactyly of finger, Cataract, Developmental cataract OMIM:619420
Monosomy 18P
Brachydactyly, Lymphedema, Microphthalmia, Brachycephaly ORPHA:1598
Sandestig-Stefanova Syndrome
Clinodactyly, Trigonocephaly, Prominent metopic ridge, Rocker bottom foot, Microphthalmia, Campto... OMIM:618804
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Polyhydramnios, Short long bone, Postaxial polydactyly OMIM:615633
Senior-Loken Syndrome
Cataract, Abnormality of bone mineral density ORPHA:3156
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, Hand monodactyly... OMIM:609945
Bresek Syndrome
Microphthalmia, Plagiocephaly, Postaxial hand polydactyly, Optic nerve hypoplasia ORPHA:85284
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios, Single transverse palmar crease OMIM:614219
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Joint stiffness, Ectopia lentis ORPHA:1885
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Plagiocephaly, Short metacarpal, Radioulnar synos... OMIM:605282
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Dolichocephaly OMIM:167730
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Stevenson-Carey Syndrome
Microphthalmia, Brachycephaly, Camptodactyly, Hip dysplasia, Joint contracture of the hand OMIM:611961
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Joint stiffness, Osteoarthritis ORPHA:1345
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Midface retrusion, Frontal bossing, Brachycephaly, Camptodactyly, ... OMIM:264180
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Chondrodysplasia Punctata 2, X-Linked Dominant
Bilateral talipes equinovarus, Abnormality of pelvic girdle bone morphology, Rhizomelia, Epiphyse... OMIM:302960
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Mesomelic arm shortening, Brachydactyly, Synostosis o... ORPHA:3103
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly, Rocker bottom foot, Hip dislocation, Wrist flexion contracture, Elb... ORPHA:1143
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Camptodactyly, Cubitus valgus, Down-sloping shoulders OMIM:619694
Gracile Bone Dysplasia
Brachydactyly, Microphthalmia, Flared metaphysis, Aniridia, Ascites, Slender long bone OMIM:602361
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micromelia, Ulnar deviation of the hand or of fingers of t... ORPHA:56304
Heart And Brain Malformation Syndrome
Prominent occiput, Microphthalmia, Wide anterior fontanel, Polyhydramnios, Hand clenching, Campto... OMIM:616920
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Abnormalit... ORPHA:85167
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the metaphysis, Abnormality of the... ORPHA:290
Retinitis Pigmentosa 4
Cataract OMIM:613731
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Joubert Syndrome 37
Microphthalmia, Frontal bossing, Prominent metopic ridge, Postaxial polydactyly OMIM:619185
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Adams-Oliver Syndrome
Brachydactyly, Finger syndactyly, Ascites, Microphthalmia, Short distal phalanx of finger, Absent... ORPHA:974
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Delayed closure of the anterior fontanelle, Optic nerve hypoplasia, ... OMIM:618736
3Q29 Microduplication Syndrome
Biparietal narrowing, Toe syndactyly, Craniosynostosis, Sandal gap, Microphthalmia, Aniridia, Lar... ORPHA:251038
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Metatarsus valgus ORPHA:899
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Tibial deviation of toes, Crani... OMIM:609128
Premature Aging Syndrome, Okamoto Type
Cataract, Osteoporosis OMIM:601811
Warburg Micro Syndrome 1
Microphthalmia, Overlapping toe OMIM:600118
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Metatropic Dysplasia
Joint stiffness, Abnormal enchondral ossification, Cataract, Camptodactyly of finger, Coarse meta... ORPHA:2635
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Frontal bossing OMIM:617306
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Silver-Russell Syndrome Due To A Point Mutation
Clinodactyly of the 5th finger, Short 5th finger, Polydactyly, Ectrodactyly, Frontal bossing, Oli... ORPHA:397590
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, Small thenar eminence, 2-3 toe syndactyly, Sandal gap, Joint contracture of the 5t... OMIM:618914
Martsolf Syndrome 1
Short palm, Short metacarpal, Broad fingertip, Short phalanx of finger, Metatarsus adductus, Micr... OMIM:212720
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Short palm, Hydrops fetalis, Micromelia, Frontal bossing, Prea... ORPHA:93271
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, Overlapping fingers, Preaxial polydactyly, Brachycephaly, Postaxia... OMIM:618142
Microphthalmia, Syndromic 6
Brachydactyly, Toe syndactyly, Plagiocephaly, Lambdoidal craniosynostosis, Finger syndactyly, Sin... OMIM:607932
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Short femoral neck, Cone-shaped epiphyses of the phalanges of the hand, Short... OMIM:304950
Subaortic Stenosis--Short Stature Syndrome
Broad toe, Short palm, Short phalanx of finger, Midface retrusion, Microphthalmia, Small hand, Sh... OMIM:271960
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Congenital Toxoplasmosis
Microphthalmia, Ascites ORPHA:858
Acromelic Frontonasal Dysostosis
Preaxial polydactyly, Polydactyly, Brachycephaly, Talipes equinovarus, Syndactyly OMIM:603671
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Prominent occiput, Plagiocephaly, Dolichocephaly, Clinodactyly of the 5th finger, Tapered finger,... OMIM:618672
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Single transverse palmar cre... OMIM:617866
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Hand polydactyly, Brachycephaly, Bilateral single transverse pa... ORPHA:2377
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly ORPHA:1665
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Single transverse palmar crease, Rhizomelia, Short 5th finger, Short thumb, Hypere... OMIM:618821
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... ORPHA:93322
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, 4-5 finger syndactyly, Fifth finger distal phalanx clinodactyly, Mi... OMIM:257850
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
2Q31.1 Microdeletion Syndrome
Brachydactyly, Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Finger syndactyly, ... ORPHA:251014
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Abnormalit... ORPHA:2097
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Unilambdoid synostosis, Plagiocephaly, Midface retrusion, Brachycephaly, Ulnar devi... OMIM:618577
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Plagiocephaly, Short metacarpal, Squ... OMIM:618853
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Brachycephaly, Postaxial polydactyly OMIM:615761
Baraitser-Winter Syndrome 2
Microphthalmia, Trigonocephaly OMIM:614583
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:48431
Humeroradial Synostosis With Craniofacial Anomalies
Plagiocephaly, Carpal synostosis, Frontal bossing, Humeroradial synostosis, Tarsal synostosis, Br... OMIM:236410
Joubert Syndrome 18
Camptodactyly, Polydactyly OMIM:614815
Bardet-Biedl Syndrome 17
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand pol... OMIM:615994
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion c... ORPHA:2712
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Microphthalmia, Broad thumb OMIM:614526
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Muenke Syndrome
Plagiocephaly, Carpal synostosis, Short palm, Coronal craniosynostosis, Cone-shaped epiphysis, Br... ORPHA:53271
Achard Syndrome
Arachnodactyly, Broad skull, Brachycephaly OMIM:100700
Meckel Syndrome
Bowing of the long bones, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Preaxial hand... ORPHA:564
Holoprosencephaly, Recurrent Infections, And Monocytosis
Brachydactyly, Tapered finger, Short finger, Brachycephaly, Short toe OMIM:610680
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Clinodactyly of the 5th finger, Complete duplication o... OMIM:201000
Microgastria-Limb Reduction Defects Association
Absent thumb, Hypoplasia of the ulna, Anophthalmia, Hand oligodactyly, Phocomelia, Hypoplasia of ... OMIM:156810
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger OMIM:606744
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Vacterl With Hydrocephalus
Anophthalmia, Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Hip dislocation ORPHA:3412
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Midface retrusion, Arachnodactyly, Adducted thumb, Talipes equinovarus, Frontal bossing, Brachyce... OMIM:615539
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios, Single transverse palmar crease OMIM:619053
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Frontal bossing OMIM:614105
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial foot polydactyly, 2-3 toe syndactyly, Broad distal phalanx of finger, Microphthalmia, B... ORPHA:404440
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Abnormally large globe, Postaxial polydactyly OMIM:603387
Nephronophthisis 15
Polydactyly OMIM:614845
Cataract 24
Anterior polar cataract OMIM:601202
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Joint stiffness ORPHA:1366
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Brachycephaly, Midface retrusion OMIM:612247
Cardioacrofacial Dysplasia 1
Midface retrusion, Genu valgum, Limb undergrowth, Postaxial polydactyly OMIM:619142
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Microphthalmia OMIM:610756
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Plagiocephaly, Trigonocephaly, Craniosynostosis OMIM:618265
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia, Lymphedema, Flat occiput OMIM:152950
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Trigonocephaly, Single transverse palmar crease, Prominent metopic ridge, ... OMIM:619148
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Finger syndactyly, Polydactyly, Wide anterior fontanel ORPHA:313781
Chromosome 15Q11.2 Deletion Syndrome
Slender finger, Plagiocephaly OMIM:615656
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... ORPHA:950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Protrusio acetabuli, Camptodacty... OMIM:259600
Pelger-Huet Anomaly
Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Polydactyly, Frontal bossing,... OMIM:169400
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Short tibia, Sho... OMIM:258860
Oligoarticular Juvenile Idiopathic Arthritis
Band keratopathy, Knee osteoarthritis, Cataract, Joint hypermobility, Rheumatoid arthritis, Oligo... ORPHA:85410
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Preaxial polydactyly, Complete duplication of the 1st metatarsal OMIM:129540
Cebalid Syndrome
Plagiocephaly, Dolichocephaly, Platystencephaly, Midface retrusion, Turricephaly, Brachycephaly OMIM:618774
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Clinodactyly, Plagiocephaly, Sandal gap, Tapered finger, Small hand, Short foot OMIM:618089
Endocrine-Cerebroosteodysplasia
Brachydactyly, Sandal gap, Preaxial polydactyly, Polydactyly, Micromelia, Midface retrusion, Ulna... OMIM:612651
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Cataract OMIM:302950
Intellectual Developmental Disorder, Autosomal Dominant 36
Plagiocephaly, Deviation of the 5th finger, Broad hallux, Postaxial polydactyly, Prominent metopi... OMIM:616362
Baraitser-Winter Syndrome 1
Microphthalmia, Trigonocephaly, Duplication of phalanx of hallux, Midface retrusion OMIM:243310
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the ... ORPHA:94066
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
German Syndrome
Dolichocephaly, Midface retrusion, Lymphedema, Brachycephaly, Camptodactyly of finger ORPHA:2077
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Pr... OMIM:617925
Joubert Syndrome 32
Frontal bossing, Postaxial polydactyly OMIM:617757
Weill-Marchesani Syndrome
Limitation of joint mobility, Cataract, Ectopia lentis ORPHA:3449
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Plagiocephaly, Midface retrusion, Brachycephaly, Bilateral microphthalmos, Camptoda... ORPHA:369891
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb OMIM:617883
Focal Dermal Hypoplasia
Brachydactyly, Toe syndactyly, Anophthalmia, Foot polydactyly, Hand oligodactyly, Short metacarpa... OMIM:305600
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Frontal bossing, Optic nerve aplasia OMIM:206900
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly, Polyhydramnios ORPHA:521390
Pde4D Haploinsufficiency Syndrome
Brachydactyly, Bilateral coxa valga, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fi... ORPHA:439822
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Rocker bottom foot, Midface retrusion, Uln... OMIM:207410
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Midface retrusion, Microphthalmia, Postaxial hand polydactyly OMIM:610829
Blindness-Scoliosis-Arachnodactyly Syndrome