Gene Summary

Name:
peroxidasin
Synonyms:
VPO1,  2310075M15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Pxdnem1(IMPC)J HOM Early adult 2.57×10-09
preweaning lethality, incomplete penetrance Pxdnem1(IMPC)J HOM   Early adult 0.00
hyperactivity Pxdnem1(IMPC)J HOM Early adult 6.14×10-17
increased vertical activity Pxdnem1(IMPC)J HOM Early adult 4.01×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Pxdn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the b... OMIM:615181
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy, Microcephaly OMIM:620086
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Skin rash, Microcephaly, Aplasia/... ORPHA:290
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract OMIM:300719
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Chorioretin... ORPHA:163937
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Anterior Segment Dysgenesis 3
Rieger anomaly, Cerebellar vermis hypoplasia, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld... OMIM:601631
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Spondylo-Ocular Syndrome
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low po... ORPHA:85194
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agene... OMIM:616171
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
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
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
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia... ORPHA:370959
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas... OMIM:620157
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Microphthalmia, Syndromic 5
Anophthalmia, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma, Microph... OMIM:610125
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy ORPHA:496790
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microcephaly ORPHA:893
Mucolipidosis Iv
Corneal opacity, Microcephaly, Optic atrophy, Opacification of the corneal stroma, Retinal degene... OMIM:252650
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Optic nerve hypoplasia, Alopecia of scalp... OMIM:615280
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Woolly Hair
Hypopigmentation of hair, Cataract, Slow-growing hair, Abnormal retinal morphology, Brittle hair,... ORPHA:170
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of... ORPHA:1466
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Dermoids Of Cornea
Corneal opacity OMIM:304730
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Agenesis of cerebellar vermis, Hypoplasia of the p... OMIM:613153
Microphthalmia, Syndromic 13
Microcephaly, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:300915
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Partial agenesis of the corpus callosum, Aplasia... OMIM:222448
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Microcephaly ORPHA:1980
Bresek Syndrome
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Microphthalmia, Iris coloboma ORPHA:85284
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Short Syndrome
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir... ORPHA:3163
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Microcephaly, Chorioretin... OMIM:152950
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Retinal coloboma... ORPHA:2791
Gms Syndrome
Rieger anomaly, Microcephaly ORPHA:2090
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Agenesis of corpus callosum, Abnormal auditory evoked potentials, Abnormally prom... OMIM:109120
Nivelon-Nivelon-Mabille Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Optic disc coloboma, Hypoplasia of the iris, Nail dys... OMIM:600092
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Microcephaly ORPHA:2528
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Pa... OMIM:614643
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Microcephaly OMIM:278780
Gómez-López-Hernández Syndrome
Toenail dysplasia, Alopecia of scalp, Corneal opacity, Cerebellar vermis hypoplasia ORPHA:1532
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Optic ... ORPHA:3378
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Cerebellar hypoplasia, ... OMIM:613001
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, Cerebral atrophy, Developmental catara... OMIM:600118
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Stromme Syndrome
Cataract, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Micro... OMIM:243605
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the corp... ORPHA:401777
Morquio Syndrome C
Corneal opacity OMIM:252300
Rabin-Pappas Syndrome
Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectas... OMIM:620155
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Inflamm... ORPHA:39044
Lissencephaly 8
Cataract, Microcephaly, Optic atrophy, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypopl... OMIM:617255
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Chondrodysplasia-Difference Of Sex Development Syndrome
Hypoplasia of the iris, Cerebral hypoplasia, Chorioretinal coloboma, Microcephaly ORPHA:1422
Aniridia 3
Aniridia, Cataract OMIM:617142
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Microcephaly, Microcornea, Chorioretinal... ORPHA:139471
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Microcephaly, Developmental catara... OMIM:613155
Axenfeld-Rieger Syndrome, Type 3
Cerebellar vermis hypoplasia, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of th... OMIM:602482
Erythrokeratodermia Variabilis
Alopecia, Cataract, Skin rash, Corneal opacity, Hypermelanotic macule, Microcephaly, Abnormal hai... ORPHA:317
Neuhauser Syndrome
Iridodonesis, Microcephaly, Low anterior hairline, Hypoplasia of the iris, Megalocornea, Cerebral... OMIM:249310
Galloway-Mowat Syndrome 1
Cataract, Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of th... OMIM:251300
Congenital Varicella Syndrome
Microphthalmia, Cataract, Cerebral cortical atrophy, Microcephaly ORPHA:291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Microceph... OMIM:236670
Immunodeficiency 10
Hypoplasia of the iris, Nail dysplasia OMIM:612783
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... ORPHA:2788
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia OMIM:613730
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... OMIM:221900
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract, Optic nerve hypoplasia, Microcephaly OMIM:222765
Gillespie Syndrome
Hypoplasia of the iris, Aniridia, Cerebellar hypoplasia OMIM:206700
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Optic nerve hypoplasia, Hyperopic astigmatism, Fine hair ORPHA:363686
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Microcephaly, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ... ORPHA:2479
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Comedonal acne,... OMIM:615147
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Microphthalmia ORPHA:627
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Cerebellar vermis hypoplasia, Fundus atrophy, Absent fo... OMIM:204100
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Optic atrophy, Corneal opacity, Developmental cataract OMIM:617183
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Kniest Dysplasia
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... ORPHA:485
Waardenburg Syndrome, Type 1
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur... OMIM:193500
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c... ORPHA:42775
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Cerebral atrophy, Macular degeneration, Rod-cone dystrophy, Retinal dege... OMIM:204200
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Astigmatism, Microphthalmia, Cafe-au-lait spot, Agenesis of... OMIM:609053
Nail-Patella Syndrome
Keratoconus, Ridged nail, Cataract, Glomerulonephritis, Concave nail, Antecubital pterygium, Micr... OMIM:161200
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Microcephaly, Abno... ORPHA:233
Mucolipidosis Type Iii
Corneal opacity, Acne ORPHA:577
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology ORPHA:782
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity, Microcephaly ORPHA:578
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Anopht... ORPHA:899
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:195
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hair, Partial a... OMIM:234050
Sialidosis Type 2
Corneal opacity, Abnormal macular morphology ORPHA:87876
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Cerebellar vermis hypoplasia, Eczema, Optic atrophy, Abnormality of skin pigmentation, ... OMIM:612379
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Optic nerve hypoplasia, Microcephaly, Astigmatism, Cerebellar hypoplasia, Small ... OMIM:301056
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasia of the cerebellar ... ORPHA:65
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment, Rieger anomaly, Microcephaly, Primary congenital glaucoma, Buphthalmos ORPHA:521445
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Focal Dermal Hypoplasia
Alopecia, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Abnormality of skin pigmentati... ORPHA:2092
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microcephaly, Optic atrophy, Coar... ORPHA:585
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Long eyelashes, Motor axonal neuropathy, Microphthalmia, Cerebral cortical... ORPHA:48431
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Morm Syndrome
Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Dubowitz Syndrome
Sparse scalp hair, Eczema, Microcephaly, Hypoplasia of the iris, Otitis media, Microphthalmia, Me... OMIM:223370
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Microcephaly, S... ORPHA:1867
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Sensory axonal neuropathy ORPHA:329314
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Rhinitis, Corneal opacity, Generalized hirsutism ORPHA:93476
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cockayne Syndrome B
Dry hair, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Microcephaly, Abn... OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Microcephaly, Abnormally large globe, Coloboma, Hypoplasia of the brainstem, Progressiv... OMIM:615249
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Microcephaly OMIM:616335
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Peripheral axonal neuropathy, Long eyebrows, Pigmentary retinopa... OMIM:275400
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum ORPHA:1777
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Short Syndrome
Megalocornea, Astigmatism, Rieger anomaly, Cataract OMIM:269880
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microphthalmia, Agenesis of corpus c... ORPHA:3301
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity, Pneumonia, Subcortical cerebral atrophy, Cerebral c... ORPHA:309288
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, ... OMIM:206900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Pneumonia, Chronic otitis media ORPHA:169090
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyebrow, Astigmatism, Hypoplasia of ... ORPHA:261250
Trisomy 12P
Aplasia/Hypoplasia of the iris, Thick eyebrow, Aplasia/Hypoplasia affecting the eye, Supernumerar... ORPHA:1699
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract ORPHA:45358
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Adams-Oliver Syndrome 2
Alopecia, Microcephaly, Optic atrophy, Low anterior hairline, Cerebral atrophy, Developmental cat... OMIM:614219
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Vitreous haze, Band keratopathy, Epiretinal ... ORPHA:279914
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Aplasia/Hypoplasia of the corpus callosum, Abnormal cornea morpholog... ORPHA:2611
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Cerebellar vermis hypoplasia, Corneal opacity, Optic nerve hypoplasia, Corneal dys... ORPHA:495875
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... ORPHA:54
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Low anterior hairline, Developmental ca... OMIM:615663
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sparse scalp hair, Cataract, Abnormal eyebrow morphology, Poliosis, Abnormal ... ORPHA:3437
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Microcephaly, Leukocoria, ... ORPHA:2714
Zika Virus Disease
Maculopapular exanthema, Skin rash, Optic disc hypoplasia, Macular atrophy, Microcephaly, Retinal... ORPHA:448237
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Microcephaly, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Insulin-Like Growth Factor I, Resistance To
Sparse scalp hair, Rieger anomaly, Highly arched eyebrow, Microcephaly, Synophrys, Hypoplasia of ... OMIM:270450
Craniotelencephalic Dysplasia
Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:218670
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow... ORPHA:93400
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Age... OMIM:218340
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... OMIM:602499
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Microcephaly, Astigmatism, Microphthalmia, Sparse lateral eyebrow OMIM:619694
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Generalized hypertrichosis, Cherry red spot of the macula ORPHA:93399
Warburg Micro Syndrome 3
Cataract, Microcephaly, Optic atrophy, Low anterior hairline, Developmental cataract, Microcornea... OMIM:614222
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Retinal dystrophy, Optic nerve hypoplasia, Slow-growing hair, Microcephaly, Sparse ... OMIM:300953
Lissencephaly 5
Cerebellar vermis hypoplasia, Cataract, Optic atrophy, Hypoplasia of the brainstem, Cerebellar he... OMIM:615191
White-Sutton Syndrome
Optic nerve hypoplasia, Microcephaly, Cerebral atrophy, Astigmatism, Hypoplasia of the corpus cal... OMIM:616364
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Warburg Micro Syndrome 2
Cataract, Microcephaly, Optic atrophy, Low anterior hairline, Developmental cataract, Microcornea... OMIM:614225
Marfan Syndrome
Retinal detachment, Flat cornea, Arthralgia/arthritis, Ectopia lentis, Lens luxation, Increased a... ORPHA:558
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... OMIM:602400
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microcephaly, Retinal pigment epithelial mottling, Hypoplasia of the corpus callosum, S... OMIM:614105
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebral co... ORPHA:3173
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Sialidosis Type 1
Cataract, Corneal opacity, Decreased nerve conduction velocity, Cherry red spot of the macula, Re... ORPHA:812
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
D-Lactic Aciduria With Gout
Aniridia, Microcephaly OMIM:245450
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Proboscis Lateralis
Abnormal eyebrow morphology, Cataract, Corneal opacity, Optic nerve hypoplasia, Anophthalmia, Abn... ORPHA:141099
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelash morphology, Sparse or absent eyelashes, Aplasia/Hypoplasia affe... ORPHA:1794
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Cerebellar vermis hypoplasia, Microcephaly, Optic ... ORPHA:2510
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Cerebrooculofacioskeletal Syndrome 2
Cataract, Microcephaly, Developmental cataract, Sparse hair, Microphthalmia OMIM:610756
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Meckel Syndrome
Cataract, Abnormal chorioretinal morphology, Anophthalmia, Sclerocornea, Microcephaly, Optic atro... ORPHA:564
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal pupil morphology, Per... ORPHA:101082
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Curry-Jones Syndrome
Optic disc coloboma, Hypopigmented skin patches, Generalized hirsutism, Microphthalmia, Agenesis ... ORPHA:1553
Incontinentia Pigmenti
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patch... OMIM:308300
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Abnormal vitreous humor morphology, Abnormal optic nerve morphol... ORPHA:1101
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Rodrigues Blindness
Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia OMIM:268320
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Frontal... ORPHA:228384
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Eales Disease
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... ORPHA:40923
Xeroderma Pigmentosum, Complementation Group B
Cataract, Freckling, Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary... OMIM:610651
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia,... ORPHA:2712
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma ORPHA:1643
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Microcephaly OMIM:601349
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Incontinentia Pigmenti
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ... ORPHA:464
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Microcephaly, Abnormal eyelash morphology, Sparse eyebrow, Widow's pea... ORPHA:2399
Marfan Syndrome
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Premature osteoarthritis, Increa... OMIM:154700
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism ORPHA:250984
Cerebrooculonasal Syndrome
Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Cerebellar vermis hypoplasia, Sparse eyeb... OMIM:605627
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thick hair, Optic nerve hypoplasia, Synophrys, Long eyelashes, Horizontal eyebrow, Hypoplasia of ... OMIM:618381
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Pierpont Syndrome
Microcornea, Microphthalmia, High anterior hairline, Primary microcephaly ORPHA:487825
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Griscelli Syndrome Type 1
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation ORPHA:79476
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Microphthalmia, Cataract, Pancreatitis OMIM:618805
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly,... ORPHA:494344
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Thick eyebrow OMIM:602562
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Microcephaly OMIM:257910
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Microcephaly, Ocular albinism, Choroideremia... ORPHA:2719
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Retinal dysplasia, Aplasia/Hypoplasia of the corpus callosum ORPHA:272
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Nail dysplasia, Microphthalmia, Retinopathy ORPHA:773
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Posterior embryotoxon, Supernumerary nipple, Hypoplasia of the iris, Hypoplasia of the corpus cal... OMIM:619194
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Cataract, Corneal opacity ORPHA:61
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... OMIM:601813
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Microcephaly, Brushfield spots, Opt... ORPHA:912
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Microphthalmia, Agenes... ORPHA:1528
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Pierpont Syndrome
Microcephaly, Microcornea, Abnormal peripheral nervous system morphology, Microphthalmia, High an... OMIM:602342
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Hypoplasia of olfactory tract, Hypoplasia of the corpus ... ORPHA:1791
Nephroblastoma
Aniridia ORPHA:654
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation, Low posterior hairline ORPHA:3456
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia, Generalized hypop... OMIM:617306
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Abnormal hair morphology, Optic atrophy, Coloboma, Spotty hyperp... ORPHA:324737
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Retinal coloboma, Horizontal eyebrow, Microphthalmia, Inferior cerebellar ... OMIM:618571
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Low anterior hairline, Agenesis of ... OMIM:618736
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Stickler Syndrome Type 1
Retinal detachment, Osteoarthritis, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retin... ORPHA:79098
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, ... OMIM:618828
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Retinal detachment, Cataract, Hypopigmentation of the fundus ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Retinal dystrophy, Cerebellar vermis hypoplasia, Buphthalmos, Hypoplasia of the corpus ... OMIM:616538
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Multiple Sulfatase Deficiency
Cerebral atrophy, Corneal opacity, Peripheral demyelination, Retinal degeneration OMIM:272200
Kapur-Toriello Syndrome
Cataract, Low posterior hairline, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:244300
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Histiocytoid Cardiomyopathy
Corneal opacity, Optic atrophy, Microphthalmia, Megalocornea, Agenesis of corpus callosum, Congen... ORPHA:137675
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cataract, Agenesis of corpus callosum ORPHA:93267
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Multiple Benign Circumferential Skin Creases On Limbs
Microcephaly, Microcornea, Microphthalmia, Irregular hyperpigmentation, Retinopathy, Generalized ... ORPHA:2505
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Bilateral microphthalmos, Abnormal hair morphology, Optic nerve hypoplasia OMIM:607597
Frontonasal Dysplasia 1
Cataract, Widow's peak, Coloboma, Microphthalmia, Agenesis of corpus callosum OMIM:136760
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Bronchiectasis, Rod-cone dyst... OMIM:615434
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Skin rash, Abnormal auditory evoked potentials, ... OMIM:617523
Olmsted Syndrome 1
Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c... OMIM:614594
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Partia... ORPHA:171680
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ... ORPHA:414
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Microcephaly, Coloboma, Abnormal optic disc morphology, Ret... ORPHA:508498
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Familial Dysautonomia
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... ORPHA:1764
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly OMIM:614833
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Eczema, Sclerocornea, Aplasia/Hypoplasia of the corpus callosum, Micro... ORPHA:284160
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... ORPHA:33445
Microphthalmia, Lenz Type
Cataract, Microcephaly, Optic disc coloboma, Aplasia/Hypoplasia of the corpus callosum, Microcorn... ORPHA:568
Optic Atrophy 11
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Facial diplegia, Cerebellar hypoplasia, Cher... OMIM:617302
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Microcephaly, Hypoplastic toenails, Popliteal pterygium, Spars... ORPHA:1234
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Hypoplasia of the corpus callosum OMIM:618914
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior OMIM:620270
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Ermine Phenotype
Hypopigmentation of hair, Microcephaly, Ocular albinism, Hypopigmented skin patches, Astigmatism,... ORPHA:999
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Achondrogenesis Type 2
Retinal detachment, Cataract, Lens subluxation, Abnormal vitreous humor morphology ORPHA:93296
Mietens Syndrome
Cataract, Corneal opacity, Sclerocornea, Microcephaly, Microcornea ORPHA:2557
Cystinosis
Retinopathy, Corneal opacity ORPHA:213
Verheij Syndrome
Coloboma, Optic nerve hypoplasia, Cerebral atrophy, Microcephaly OMIM:615583
Triple A Syndrome
Generalized hyperpigmentation, Microcephaly, Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia OMIM:194072
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Retinopathy of prematurit... ORPHA:447788
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma