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Gene: Nectin3 MGI:1930171

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nectin cell adhesion molecule 3
Synonyms:
nectin-3,  2610301B19Rik,  Pvrl3,  3000002N23Rik,  4921513D19Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Nectin3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nectin3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Cataract 44
Developmental cataract OMIM:616509
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Taurodontism
Taurodontia OMIM:272700
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Infertility OMIM:300719
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Cataract 7
Developmental cataract OMIM:115660
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin... OMIM:251270
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy ORPHA:363741
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Trichomegaly
Cataract OMIM:190330
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia, Primary amenorrhea OMIM:616947
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, ... OMIM:612109
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea OMIM:251750
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Rhegmatogenous retinal detachment, Cataract, Peripheral ... ORPHA:891
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract ORPHA:324416
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Galactosemia Iv
Cataract OMIM:618881
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation ORPHA:85194
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... OMIM:221900
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Atkin-Flaitz Syndrome
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... ORPHA:1193
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Gombo Syndrome
Microphthalmia OMIM:233270
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... OMIM:120200
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya... OMIM:609049
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Pseudoexfoliation, Pigment de... OMIM:177650
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 17
Male infertility OMIM:617214
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia ORPHA:1466
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia ORPHA:251393
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Rubinstein-Taybi Syndrome 2
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... OMIM:613684
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Filippi Syndrome
Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors OMIM:272440
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... ORPHA:139471
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia, Short philtru... ORPHA:166108
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Infertility OMIM:240950
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Cataract 47
Microcornea, Cataract OMIM:612018
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia OMIM:615181
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Nance-Horan Syndrome
Microcornea, Microphthalmia, Retinal detachment, Cataract ORPHA:627
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... OMIM:616468
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Microphthalmia, Syndromic 5
Anophthalmia, Cataract, Optic nerve hypoplasia, Retinal dystrophy, Cryptorchidism, Microcornea, M... OMIM:610125
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor OMIM:302350
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... ORPHA:69087
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy OMIM:617255
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia OMIM:614564
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Kniest Dysplasia
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... ORPHA:485
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Proximal Myotonic Myopathy
Cataract ORPHA:606
Edict Syndrome
Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract OMIM:614303
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... OMIM:602499
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Warburg Micro Syndrome 1
Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Cryptorchidism OMIM:601349
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia OMIM:605282
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... ORPHA:2788
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... ORPHA:290
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Developmental cataract OMIM:613155
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism ORPHA:48431
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... OMIM:618067
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Microphthalmia, Cataract, Corneal opacity OMIM:613153
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy OMIM:274270
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Cataract, Developmental cataract OMIM:610756
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Cataract, Retinal dys... ORPHA:899
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Intermediate Uveitis
Anterior uveitis, Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, V... ORPHA:279914
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Mmep Syndrome
Microphthalmia ORPHA:3434
Usher Syndrome
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:886
Acrootoocular Syndrome
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... ORPHA:2980
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Temtamy Syndrome
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Retinal degeneration, Abnormally large globe OMIM:615249
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Pierpont Syndrome
Microcornea, Microphthalmia, Cryptorchidism ORPHA:487825
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract ORPHA:93267
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma, Decreased testicular size ORPHA:85284
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... ORPHA:364028
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia OMIM:610651
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... OMIM:619229
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism ORPHA:141333
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... OMIM:216550
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Microphthalmia, Cataract, Iris transillumination defect OMIM:617306
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Pierpont Syndrome
Microcornea, Microphthalmia, Cryptorchidism OMIM:602342
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microphthalmia, Iris... ORPHA:3301
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmi... ORPHA:494344
Trisomy 13
Anophthalmia, Cataract, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Apla... ORPHA:3378
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Optic atrophy OMIM:612379
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, M... ORPHA:85167
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Cataract, Retinal pigment epithelial mottling OMIM:614105
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... ORPHA:582
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma ORPHA:2712
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Warburg Micro Syndrome 2
Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Warburg Micro Syndrome 4
Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Decreased tes... OMIM:615663
Warburg Micro Syndrome 3
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth... OMIM:614222
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma ORPHA:2328
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma ORPHA:77298
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina... ORPHA:2510
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Refsum Disease
Retinopathy, Microphthalmia, Cataract, Abnormality of retinal pigmentation ORPHA:773
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Microphthalmia, Cataract, Hypopigmentation of the fundus ORPHA:163649
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia OMIM:615665
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Developmental cataract OMIM:614219
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Microphthalmia, Megalocornea, Congenital aphakia ORPHA:137675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... ORPHA:438216
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Decreased fertility, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color OMIM:163200
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:244300
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Frontonasal Dysplasia 1
Microphthalmia, Cataract OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia OMIM:615877
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid... ORPHA:42775
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth OMIM:253000
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract OMIM:277600
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth OMIM:253010
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Microphthalmia, Lenz Type
Cataract, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmi... ORPHA:568
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Marshall Syndrome
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... OMIM:154780
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Microcornea, Microph... OMIM:110100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Astigmatism, Retinal coloboma, Cataract OMIM:618571
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Narr... OMIM:235510
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Cryptorch... OMIM:236670
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Baraitser-Winter Syndrome 1
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Cryptorchidism OMIM:243310
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia, Retinopathy, Cryptorchidism ORPHA:2505
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor OMIM:300887
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Cataract, Developmental cataract OMIM:616395
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cataract, Cryptorchidism OMIM:214150
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Classic Galactosemia
Male infertility, Cataract, Premature ovarian insufficiency, Decreased fertility in females, Cryp... ORPHA:79239
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Sandestig-Stefanova Syndrome
Microphthalmia, Developmental cataract OMIM:618804
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Congenital Fibrinogen Deficiency
Microphthalmia, Developmental cataract ORPHA:335
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Phace Association
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic... OMIM:606519
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Peters anomaly OMIM:618652
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iris hypopigmentation ORPHA:284160
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia OMIM:614230
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Pigmentary retinopathy, Chordee, Peters anomaly, Microphthalmia, Iris col... OMIM:309801
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Peters anomaly OMIM:614526
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... ORPHA:289
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cataract, Cryptorchidism, Hypogonadism, Microphthalmia, Iris coloboma ORPHA:2250
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... OMIM:259770
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Microphthalmia, Papilledema, Developmental cataract OMIM:127000
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Cerebellar-Facial-Dental Syndrome
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo... ORPHA:444072
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos OMIM:615085
Steinfeld Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma OMIM:184705
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Retinal vascular proliferation,... OMIM:308300
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Optic nerve hypoplasia OMIM:609053
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... ORPHA:73223
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypogonadotrop... OMIM:206900
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
W Syndrome
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
Frontorhiny
Microphthalmia, Cataract, Iris coloboma ORPHA:391474
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg... ORPHA:666
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Chorioretinal dy... ORPHA:2526
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Micr... ORPHA:193
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Vitreous hemorrhage, Developmental cataract OMIM:620185
Marfan Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the gl... OMIM:154700
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract ORPHA:35173
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Optic atrophy OMIM:201180
Seckel Syndrome 2
Microphthalmia OMIM:606744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... OMIM:253280
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Cataract OMIM:616449
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Keratitis, Reti... ORPHA:464
Ritscher-Schinzel Syndrome 3
Microphthalmia, Chorioretinal coloboma, Cryptorchidism OMIM:619135
Pelvis-Shoulder Dysplasia
Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma ORPHA:2839
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia OMIM:601675
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microp... ORPHA:959
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Microphthalmia OMIM:212720
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... OMIM:610829
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, Microphthalmia ORPHA:3412
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Meckel Syndrome
Anophthalmia, Abnormal chorioretinal morphology, Cataract, Sclerocornea, Cryptorchidism, Optic at... ORPHA:564
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Porphyria, Congenital Erythropoietic
Erythrodontia OMIM:263700
Jacobsen Syndrome
Cryptorchidism, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphth... OMIM:147791
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Iris coloboma, Unilateral microphthalmos OMIM:618874
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Sclerocornea OMIM:300952
Joubert Syndrome 37
Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:619185
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Microcornea, Microphthalmia, Iris ... ORPHA:3380
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia OMIM:251300
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism ORPHA:250989
Cockayne Syndrome Type 3
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Microcornea,... ORPHA:90324
Adams-Oliver Syndrome
Microphthalmia, Cataract ORPHA:974
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
3Q29 Microdeletion Syndrome
Microphthalmia, Cataract ORPHA:65286
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Moebius Syndrome
Microphthalmia, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Monosomy 13Q14
Microphthalmia, Cataract, Retinoblastoma, Iris coloboma ORPHA:1587
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:228390
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Monosomy 18P
Microphthalmia ORPHA:1598
Rubinstein-Taybi Syndrome 1
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:180849
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Hallermann-Streiff Syndrome
Cataract, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:234100
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Decreased t... ORPHA:93325
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro... ORPHA:191
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle... ORPHA:2556
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Cataract OMIM:302960
Hepatoerythropoietic Porphyria
Erythrodontia ORPHA:95159
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ... ORPHA:2092
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Proboscis Lateralis
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea... ORPHA:141099
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Joubert Syndrome 14
Microphthalmia, Optic atrophy, Morning glory anomaly OMIM:614424
Doors Syndrome
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... ORPHA:79500
Joubert Syndrome 2
Microphthalmia, Optic disc coloboma, Retinal dystrophy, Chorioretinal coloboma OMIM:608091
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion... ORPHA:353281
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Dubowitz Syndrome
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Megalocornea, Rod-cone dystrophy, Iris co... OMIM:223370
2Q31.1 Microdeletion Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma, Cryptorchidism ORPHA:251014
Aicardi Syndrome
Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht... OMIM:304050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal cornea morphology OMIM:244400
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn... OMIM:616268
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphthalmia OMIM:603457
Linear Nevus Sebaceus Syndrome
Microphthalmia, Iris coloboma ORPHA:2612
Cat Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:115470
Microphthalmia, Syndromic 1
Anophthalmia, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioreti... OMIM:309800
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma ORPHA:1236
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Monosomy 9Q22.3
Microphthalmia, Cataract, Retinopathy ORPHA:77301
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Thin vermilion border, Shor... ORPHA:363611
Rothmund-Thomson Syndrome, Type 2
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Zonular cataract OMIM:268400
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Phthis... OMIM:300166
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity, Hypermyelinated retinal nerve fibers OMIM:601812
Cockayne Syndrome B
Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplasia of the iris, Microcornea, Pigme... OMIM:133540
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Microphthalmia, Developmental cataract ORPHA:464738
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Retinoblastoma OMIM:613884
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... ORPHA:50
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Congenital Erythropoietic Porphyria
Erythrodontia ORPHA:79277
Fryns Syndrome
Microphthalmia, Corneal opacity, Cryptorchidism ORPHA:2059
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Mosaic Trisomy 9
Microphthalmia, Corneal opacity, Cryptorchidism ORPHA:99776
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Developmental cataract, Microcornea, Macular degenerati... ORPHA:33364
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Congenital statio... ORPHA:8
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... ORPHA:353277
Holoprosencephaly
Anophthalmia, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Microphthalmia, Retinopathy,... ORPHA:2162
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Mosaic Trisomy 1
Microphthalmia, Opacification of the corneal stroma ORPHA:1692
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism OMIM:248700
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Basal Cell Nevus Syndrome 1
Microphthalmia, Cataract, Iris coloboma OMIM:109400
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... OMIM:261540
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract, Uveitis OMIM:164200
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... OMIM:268305
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:612530
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Hallermann-Streiff Syndrome
Cryptorchidism, Microphthalmia, Uveitis, Developmental cataract ORPHA:2108
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Microphthalmia, Iris co... ORPHA:508498
Fanconi Anemia, Complementation Group A
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Treacher-Collins Syndrome
Microphthalmia, Cataract, Iris coloboma, Cryptorchidism ORPHA:861
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Mend Syndrome
Microphthalmia, Cataract, Cryptorchidism ORPHA:401973
Tetraamelia Syndrome 1
Microphthalmia, Cataract OMIM:273395
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Cataract, Corneal opacity ORPHA:1052
Holoprosencephaly 2
Microphthalmia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Fanconi Anemia
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoospermia, Decreased fertility in mal... ORPHA:84
Bartsocas-Papas Syndrome 1
Bilateral cryptorchidism, Popliteal pterygium, Opacification of the corneal stroma, Microphthalmi... OMIM:263650
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Abnormal pupil morphology, Bu... ORPHA:534
Primary Ciliary Dyskinesia
Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility ORPHA:244
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:619148
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Iris coloboma ORPHA:3186
Acromelic Frontonasal Dysostosis
Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Cataract, Cryptorchidism OMIM:620005
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Roberts Syndrome
Microphthalmia, Cataract, Cryptorchidism ORPHA:3103
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Charge Syndrome
Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Chorioretinal colobom... ORPHA:138
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Agenesis of incisor, Wide mouth, W... OMIM:619841
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hydrocele testis, Microphthalmia, Optic disc coloboma, Iris coloboma OMIM:620186
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Microphthalmia, Optic atrophy, Peters anomaly OMIM:616975
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
22Q11.2 Deletion Syndrome
Cataract, Retinal arteriolar tortuosity, Cryptorchidism, Optic atrophy, Microphthalmia, Posterior... ORPHA:567
Mowat-Wilson Syndrome
Cataract, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, ... OMIM:235730
Focal Dermal Hypoplasia
Anophthalmia, Ectopia lentis, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Aniridia, Mi... OMIM:305600
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia, Cryptorchidism OMIM:616734
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:610828
Bloom Syndrome
Malar flattening, Agenesis of maxillary lateral incisor OMIM:210900
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Meckel Syndrome 14
Microphthalmia OMIM:619879
Ohdo Syndrome, X-Linked
Microphthalmia, Cryptorchidism OMIM:300895
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Corneal opacity OMIM:608670
Myhre Syndrome
Microphthalmia, Cataract, Cryptorchidism OMIM:139210
Cystinosis, Nephropathic
Male infertility, Retinal pigment epithelial mottling, Pigmentary retinopathy, Recurrent corneal ... OMIM:219800
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Corneal scarring, Developmental cataract, Microphthalmia, Dense posterior cortica... OMIM:309000
Microphthalmia, Syndromic 6
Anophthalmia, Female hypogonadism, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, ... OMIM:607932
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Isolated Arrhinia
Microphthalmia ORPHA:1134
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Fryns Syndrome
Microphthalmia, Opacification of the corneal stroma, Cryptorchidism OMIM:229850
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Microphthalmia With Limb Anomalies
Microphthalmia, Optic atrophy, True anophthalmia, Cryptorchidism ORPHA:1106
Pallister-Hall Syndrome
Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:146510
Renpenning Syndrome 1
Microphthalmia, Cataract, Decreased testicular size OMIM:309500
Branchiooculofacial Syndrome
Anophthalmia, Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:113620
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Cryptorchidism OMIM:616300
Charge Syndrome
Anophthalmia, Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Unilateral microphthalmos,... OMIM:214800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Antecubital pterygium, Cryptorchidism OMIM:609945
Meckel Syndrome, Type 1
Microphthalmia, Iris coloboma, Cryptorchidism OMIM:249000
Yunis-Varon Syndrome
Cataract, Sclerocornea, Cryptorchidism, Bilateral microphthalmos, Microphthalmia ORPHA:3472
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Attenuation ... ORPHA:468631
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227646
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Townes-Brocks Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:857
Neu-Laxova Syndrome 1
Microphthalmia, Pterygium, Cataract, Cryptorchidism OMIM:256520
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Fraser Syndrome 2
Microphthalmia OMIM:617666
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Witteveen-Kolk Syndrome
Cataract, Unilateral cryptorchidism, Anisocoria, Microphthalmia, Iris coloboma OMIM:613406
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Cryptorchidism, Abnormal pupil morphology, Optic atrophy, Microcornea, Hy... ORPHA:261552
Monosomy 9P
Microphthalmia, Cryptorchidism ORPHA:261112
Fraser Syndrome 1
Cryptorchidism, Anophthalmia, Corneal opacity, Bilateral microphthalmos OMIM:219000
Alström Syndrome
Tooth agenesis, Abnormality of dental color, Gingivitis, Recurrent sinusitis ORPHA:64
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cataract, Cryptorchidism, Hydrocele testis, Astigmatism, Retinal coloboma, Axenfeld anomaly, Chor... ORPHA:261537
Degcags Syndrome
Microphthalmia, Chordee, Cryptorchidism OMIM:619488
Mowat-Wilson Syndrome
Cataract, Cryptorchidism, Hydrocele testis, Astigmatism, Retinal coloboma, Axenfeld anomaly, Chor... ORPHA:2152
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Cryptorchidism, Opacification of the corneal stroma, Microphthalmia OMIM:268300
Fontaine Progeroid Syndrome
Microphthalmia, Cryptorchidism OMIM:612289
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia ORPHA:508488
Holoprosencephaly 1
Microphthalmia OMIM:236100
Pallister-Hall Syndrome
Microphthalmia, Decreased testicular size, Cryptorchidism ORPHA:672
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Hydrolethalus Syndrome 1
Microphthalmia OMIM:236680
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Anophthalmia OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nectin3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nectin3.

No publications found that use IMPC mice or data for Nectin3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nectin3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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