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,  4921513D19Rik,  2610301B19Rik,  3000002N23Rik,  Pvrl3

IMPC Data Collections

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

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.

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
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Incisors, Rotation Of Upper Central
Rotated maxillary central incisors OMIM:147350
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Diastema, Dental Medial
Diastema, Widely-spaced maxillary central incisors OMIM:125900
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Tooth Agenesis, Selective, 3
Oligodontia, Microdontia OMIM:604625
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
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
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Cataract 44
Developmental cataract OMIM:616509
Taurodontism
Taurodontia OMIM:272700
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Microspherophakia With Hernia
Superior lens subluxation, Microspherophakia, Retinal detachment OMIM:157150
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Rod-cone dystrophy OMIM:300719
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microphthalm... OMIM:212550
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Aniridia 3
Cataract OMIM:617142
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Cataract 7
Developmental cataract OMIM:115660
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Cataract 11, Multiple Types
Cataract, Microphthalmia OMIM:610623
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation, Microphthalmia ORPHA:35612
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve misrouting, Microp... OMIM:609218
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Persistence of primary teeth, Hypodontia OMIM:125350
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cataract, Microcornea, Microphthalmia, Optic atrophy, Retinopathy, Optic disc pa... OMIM:616171
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia, Cataract, Opacification of t... OMIM:310600
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Micropht... ORPHA:1473
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea OMIM:269400
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Abnormal retinal vascular ... ORPHA:190
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Cataract, Microp... OMIM:251270
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea,... OMIM:610202
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary... ORPHA:199306
Trichomegaly
Cataract OMIM:190330
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Microphthalmia, Hypogonadism, Rod-cone dystrophy OMIM:601794
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Teeth, Supernumerary
Mesiodens, Supernumerary tooth OMIM:187100
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microphthalmia OMIM:615771
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Microphthalmia, Hypogonadism, Rod-cone dystrophy ORPHA:363741
Microphthalmia, Isolated 3
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology ORPHA:1653
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea, Macular dystrophy OMIM:616947
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:614819
Retinitis Pigmentosa 84
Macular atrophy, Cataract, Rod-cone dystrophy, Macular coloboma OMIM:618220
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Cataract 42
Developmental cataract OMIM:115900
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Microphthalmia OMIM:120433
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Cataract, Posterior vitreous detachment, Reti... OMIM:616468
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar process hypopla... ORPHA:2972
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Hypogonadism, Microcornea, Microphthalmia ORPHA:2528
Galactosemia Iv
Cataract OMIM:618881
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Cataract, Microcornea OMIM:106230
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Retinal detachment, Aplasia/Hypoplasia of the lens ORPHA:85194
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Microphthalmia OMIM:610023
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... ORPHA:3352
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Remnants of the hyaloid vascular system, Shallow ante... OMIM:221900
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Microphthalmia, Abnormal anterior eye segment morphology, Exudati... ORPHA:209956
Uveal Melanoma
Zonular cataract, Inferior lens subluxation, Mydriasis, Retinal detachment, Vitreous hemorrhage, ... ORPHA:39044
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia OMIM:190320
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Microphthalmia ORPHA:1574
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Retinal degeneration, Mi... OMIM:267760
Otodental Dysplasia
Long philtrum, Pulp calcification, Taurodontia, Hypodontia OMIM:166750
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Bilateral microphthalmos OMIM:608763
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory a... OMIM:120200
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystr... OMIM:180104
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Gombo Syndrome
Microphthalmia OMIM:233270
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Conical mandibular incisor, Discolored lateral incisors OMIM:601668
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract OMIM:246000
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Retinal detachment, Retinopathy ORPHA:90654
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Retinal dots, Retinal d... OMIM:193230
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Aniridia 2
Aniridia, Cataract OMIM:617141
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract, Peripapillary atrophy, Macular degeneration, Optic disc pallor OMIM:618195
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Laryngoonychocutaneous Syndrome
Amelogenesis imperfecta OMIM:245660
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Retinitis Pigmentosa 2
Cataract, Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Isolated Aniridia
Aniridia, Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Microphthalmia, Hypogonadism, Optic atrophy ORPHA:1466
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Liang-Wang Syndrome
Macroglossia, Downturned corners of mouth, Everted lower lip vermilion, Diastema, Wide mouth, Mac... OMIM:618729
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits ORPHA:251393
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Iris... OMIM:177650
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia OMIM:262020
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Usher Syndrome Type 2
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:231178
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Ocular anterior segment dysgenesis, Microcornea, Microphthalmia, Sclerocornea, Ret... OMIM:615145
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract, Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis OMIM:150400
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia ORPHA:1617
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia OMIM:300915
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Hypogonadism, Male hypogonadism OMIM:240950
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit... ORPHA:1031
Cerebellofaciodental Syndrome
Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia OMIM:616202
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia, Retinal detachment ORPHA:627
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Corneal opacity, Cataract, Microcornea, Microphth... OMIM:152950
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, High, narrow palate, Incisor macrodontia, Thick vermi... ORPHA:166108
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300602
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615181
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Cataract, Microcornea, Microphthalmia, ... ORPHA:139471
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Eruption failure, Alveo... OMIM:273050
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Cleft palate OMIM:615502
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Microphthalmia OMIM:614830
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300431
Nance-Horan Syndrome
Mulberry molar, Diastema, Supernumerary maxillary incisor, Screwdriver-shaped incisors OMIM:302350
Nail-Patella Syndrome
Keratoconus, Microphakia, Cataract, Microcornea, Antecubital pterygium, Lester's sign OMIM:161200
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Microcoria, Retinal dystrophy OMIM:263100
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Papillorenal Syndrome
Retinal coloboma, Lens luxation, Chorioretinal atrophy, Morning glory anomaly, Cataract, Macular ... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Microphthalmia, Retinal detachment OMIM:613153
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Pierson Syndrome
Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Posterior lenticonus OMIM:609049
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Microphthalmia, Sclerocornea, Anophthalmia OMIM:615877
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Diastema, Cleft palate, Microdontia OMIM:605282
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, M... ORPHA:290
Kniest Dysplasia
Lens luxation, Lattice retinal degeneration, Cataract, Rhegmatogenous retinal detachment, Retinal... ORPHA:485
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Talon cusp, Tooth malposition, Narrow mouth, Abnormality of canine, Abnormality of t... ORPHA:363417
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Corneal opacity, Microphthalmia,... ORPHA:2788
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Microphthalmia, Syndromic 5
Retinal dystrophy, Cataract, Optic nerve hypoplasia, Microphthalmia, Microcornea, Anophthalmia OMIM:610125
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Optic atrophy, Microcornea, Microphthalmia ORPHA:35173
Amoebic Keratitis
Decreased corneal sensation, Abnormal posterior eye segment morphology, Abnormal corneal epitheli... ORPHA:67043
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract, Retinal atrophy OMIM:616722
Warburg Micro Syndrome 1
Developmental cataract, Optic atrophy, Microcornea, Microphthalmia OMIM:600118
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Cataract, Microcornea, Microphthalmia ORPHA:48431
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
Adams-Oliver Syndrome 2
Developmental cataract, Optic atrophy, Microphthalmia OMIM:614219
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium, Popliteal pterygium OMIM:619339
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia OMIM:274270
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Nuclear cataract OMIM:604307
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Mmep Syndrome
Microphthalmia ORPHA:3434
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Iris coloboma, Lens subluxation OMIM:216820
Acrootoocular Syndrome
Delayed eruption of teeth, Dental malocclusion, Grayish enamel, Anodontia, Supernumerary tooth, H... ORPHA:2980
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia ORPHA:886
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria, Cataract, Microphthalmia, Retinal detachment ORPHA:2714
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Shovel-shaped maxillary central incisors, Open mouth, Dental crowding OMIM:600906
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Walker-Warburg Syndrome
Chorioretinal dysplasia, Iris coloboma, Corneal opacity, Retinal dystrophy, Abnormality of the op... ORPHA:899
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, Retinal detachment OMIM:615113
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Cataract, Abnormally large globe, Retinal degeneration OMIM:615249
Intermediate Uveitis
Macular scar, Vitreous haze, Vitreous snowballs, Cystoid macular edema, Epiretinal membrane, Opti... ORPHA:279914
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Delayed eruption of teeth, Drooling, A... OMIM:619229
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Cataract, Microphthalmia, Hypogonadism, Optic atrophy OMIM:610651
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Microphthalmia ORPHA:141333
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cataract 43
Subcapsular cataract OMIM:616279
Weill-Marchesani Syndrome 1
Cataract, Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:277600
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormality of dental morphology OMIM:163200
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis, Microphthalmia OMIM:601552
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Downturned corners of mouth, Retrognathia, Cleft p... ORPHA:2409
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia, Microphthalmia ORPHA:1528
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Warburg Micro Syndrome 2
Developmental cataract, Cataract, Microcornea, Microphthalmia, Optic atrophy OMIM:614225
Cohen Syndrome
Short philtrum, Open mouth, Macrodontia of permanent maxillary central incisor, High, narrow pala... OMIM:216550
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Corneal opacity, Cataract, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Mucopolysaccharidosis, Type Iva
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Widely spaced teeth OMIM:253000
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Cataract, Megalocornea, Optic nerve hypoplasia, Microphthalmia, Reti... ORPHA:370959
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Cataract, Microcornea, Microphthalmia, Optic at... OMIM:614222
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Norrie Disease
Remnants of the hyaloid vascular system, Anterior chamber synechiae, Ectopia lentis, Corneal opac... ORPHA:649
Mucopolysaccharidosis, Type Ivb
Carious teeth, Mandibular prognathia, Wide mouth, Grayish enamel, Widely spaced teeth OMIM:253010
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Wide mouth, Grayish enamel, Abnormality of the ... ORPHA:582
X-Linked Intellectual Disability Due To Gria3 Mutations
Short philtrum, Narrow palate, Open mouth, Mandibular prognathia, Thick vermilion border, Macrodo... ORPHA:364028
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Frontofacionasal Dysplasia
Brushfield spots, Iris coloboma, Cataract, Microcornea, Microphthalmia, Limbal dermoid ORPHA:1791
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Decreased fertility, Optic atrophy OMIM:234050
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Refsum Disease
Cataract, Abnormality of retinal pigmentation, Retinopathy, Microphthalmia ORPHA:773
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia ORPHA:2328
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Lens luxation, Ectopia lentis, Microspherophakia, Iridodonesis, Catarac... OMIM:608328
Oculofaciocardiodental Syndrome
Iris coloboma, Ectopia lentis, Cataract, Microcornea, Microphthalmia, Retinal detachment ORPHA:2712
Aniridia 1
Aniridia, Macular agenesis, Anterior subcapsular cataract, Corneal erosion, Chorioretinal hypopig... OMIM:106210
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Trisomy 13
Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Microphthalmia, Abnormal retinal vascula... ORPHA:3378
Frontonasal Dysplasia 1
Cataract, Microphthalmia OMIM:136760
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Iris coloboma ORPHA:85284
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Joubert Syndrome 22
Retinal dysplasia, Microphthalmia OMIM:615665
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Cataract, Peters anomaly, Optic nerve... OMIM:614643
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Corneal neovascu... OMIM:278730
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypopigmentation of the fundus, Cataract, Microphthalmia, Retinal detachment ORPHA:163649
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Tetraamelia-Multiple Malformations Syndrome
Iris coloboma, Cataract, Septo-optic dysplasia, Microphthalmia, Microcornea, Optic atrophy ORPHA:3301
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Microphthalmia, Optic atrophy ORPHA:137675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia, Retinal dystrophy OMIM:616538
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Cataract, Microphthalmia, Astigmatism, Optic atrophy OMIM:618727
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Iris coloboma, Peters anomaly, Microphthalmia, Astigmatism, Optic atrophy ORPHA:494344
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ver... ORPHA:438216
Phace Syndrome
Heterochromia iridis, Iris coloboma, Lens coloboma, Cataract, Optic nerve hypoplasia, Microphthal... ORPHA:42775
Marshall Syndrome
Long philtrum, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin sequence, Thick up... OMIM:154780
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Iris atrophy, Microphthalmia, Absent anterior chamber of the eye, Ph... OMIM:259770
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Cataract, Microcornea, Microphthalmia, Opt... ORPHA:2510
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Microphthalmia ORPHA:858
Kapur-Toriello Syndrome
Retinal coloboma, Cataract, Iris coloboma, Microphthalmia OMIM:244300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Microphthalmia, Sclerocornea, Anophthalmia ORPHA:77298
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Warburg Micro Syndrome 4
Developmental cataract, Optic atrophy, Microcornea, Microphthalmia OMIM:615663
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Curry-Jones Syndrome
Optic disc coloboma, Iris coloboma, Microphthalmia ORPHA:1553
Stromme Syndrome
Iris coloboma, Cataract, Peters anomaly, Optic nerve hypoplasia, Microphthalmia, Microcornea, Scl... OMIM:243605
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, Velopharyngeal i... ORPHA:199302
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Oligodontia, Narrow palate, Narrow mouth, Conical incisor, Smooth phil... OMIM:235510
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Cat Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:115470
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Retinal coloboma, Cataract, Astigmatism, Microphthalmia OMIM:618571
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, Microcornea, Microphthalmia, Premature ov... OMIM:110100
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy, Chordee, Iris coloboma, Cataract, Microphthalmia, Sclerocornea OMIM:309801
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Macrodontia of permanent maxillary central incisor, Impaired mastication ORPHA:466722
Marfan Syndrome
Ectopia lentis, Microspherophakia, Hypoplasia of the iris, Cataract, Retinal detachment, Astigmat... OMIM:154700
Classic Galactosemia
Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Cataract, Secondary amenorrhe... ORPHA:79239
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Sclerocornea, Abnormal anterior chamber morphology, Limba... OMIM:613001
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:243310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Retinal atrophy, Corneal opacity, Retinal dysplasia, Cataract, Megalocornea, Peters ... OMIM:236670
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Retinopathy, Microphthalmia ORPHA:2505
Phace Association
Developmental cataract, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity, Op... OMIM:606519
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Incontinentia Pigmenti
Uveitis, Cataract, Keratitis, Retinal hemorrhage, Microphthalmia, Retinal detachment, Hypoplasia ... OMIM:308300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Conical incisor, Abnormality of the dentition, ... ORPHA:289
Steinfeld Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia OMIM:184705
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Recurrent mandibular subluxations, Gingival hyperkeratosis, Everted lower lip ... OMIM:225410
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... ORPHA:364577
Pallister W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Agenesis of central incisor, Submucous cleft ... OMIM:311450
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Papilledema, Microphthalmia, Retinal calcification OMIM:127000
Porphyria, Congenital Erythropoietic
Abnormality of the mouth, Erythrodontia OMIM:263700
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia OMIM:618652
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Bilateral microphthalmos OMIM:600122
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Iris coloboma, Cataract, Microphthalmia, Anophthalmia, Hypogonadism ORPHA:2250
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Corneal opacity, Cataract, Microphthalmia, Sclerocornea ORPHA:284160
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Macrodontia of permanent maxillary central incisor, Alveolar ridge ov... ORPHA:444072
Osteogenesis Imperfecta
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Delayed eruption o... ORPHA:666
Fanconi Anemia, Complementation Group I
Astigmatism, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal dysplasia, Cataract, Microphthalmia, Retinal detachment, Optic atrophy OMIM:253800
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly, Microphthalmia OMIM:613150
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism ORPHA:1352
Microphthalmia, Lenz Type
Chorioretinal coloboma, Optic disc coloboma, Iris coloboma, Cataract, Microcornea, Microphthalmia ORPHA:568
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Localized hypoplasia of dental enamel, Conical incisor, Max... ORPHA:73223
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Familial Male-Limited Precocious Puberty
Male infertility, Oligospermia ORPHA:3000
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia OMIM:616734
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Retinal atrophy, Retinal degeneration, Retinal dysplasia, Cataract, Megalocornea, Op... OMIM:253280
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate ORPHA:2804
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Trichothiodystrophy 1, Photosensitive
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia, Hypogonadism OMIM:601675
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Corneal opacity, Hypoplasia of the iris, Hypopigmentation of t... OMIM:175780
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Abnormality of t... ORPHA:2526
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Developmental cataract, Microphthalmia OMIM:212720
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia OMIM:211900
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Iris atrophy, Microphthalmia OMIM:201180
Pelvis-Shoulder Dysplasia
Retinal coloboma, Microcornea, Iris coloboma, Bilateral microphthalmos ORPHA:2839
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Uveitis, Retinal vascular proliferation, Corneal opacity, Cata... ORPHA:464
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Agenesis of maxillary incisor, Bifid tongue, Cl... ORPHA:1401
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea, Microphthalmia OMIM:271960
Acro-Renal-Ocular Syndrome
Chorioretinal coloboma, Optic disc hypoplasia, Optic disc coloboma, Iris coloboma, Cataract, Micr... ORPHA:959
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Retinal coloboma, Iris coloboma, Cataract, Microphthalmia OMIM:607323
Holoprosencephaly 9
Hypoplasia of the premaxilla, Short philtrum, Agenesis of incisor, Bilateral cleft lip and palate... OMIM:610829
Cohen Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Microphthalmia, Optic atrophy, Chorioretinal ... ORPHA:193
Seckel Syndrome 2
Microphthalmia OMIM:606744
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Joubert Syndrome 14
Morning glory anomaly, Microphthalmia OMIM:614424
Meckel Syndrome
Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the iris, Cataract, Microcornea, Microph... ORPHA:564
Aplasia Of Lacrimal And Salivary Glands
Xerostomia, Carious teeth OMIM:180920
Jacobsen Syndrome
Chorioretinal coloboma, Iris coloboma, Macular hypoplasia, Microcornea, Microphthalmia, Optic atr... OMIM:147791
Cockayne Syndrome Type 3
Retinal atrophy, Lentiglobus, Retinal degeneration, Retinal dystrophy, Cataract, Keratoconjunctiv... ORPHA:90324
Monosomy 18P
Microphthalmia ORPHA:1598
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Hepatoerythropoietic Porphyria
Erythrodontia ORPHA:95159
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Monosomy 13Q14
Retinoblastoma, Cataract, Iris coloboma, Microphthalmia ORPHA:1587
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia ORPHA:65286
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Trisomy 18
Abnormality of retinal pigmentation, Iris coloboma, Cataract, Microcornea, Microphthalmia ORPHA:3380
Non-Specific Syndromic Intellectual Disability
Long philtrum, Thin vermilion border, Narrow mouth, Incisor macrodontia, Smooth philtrum, High pa... ORPHA:528084
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Microphthalmia OMIM:619135
Sponastrime Dysplasia
Microcoria, Congenital aphakia, Cataract ORPHA:93357
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Microphthalmia, Optic atrophy OMIM:251300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormality of t... ORPHA:637
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal cornea morphology OMIM:244400
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:268249
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Cataract, Iris coloboma, Microphthalmia OMIM:234100
Oculotrichoanal Syndrome