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
hyperactivity Pxdnem1(IMPC)J HOM   Early adult 3.92×10-17
preweaning lethality, incomplete penetrance Pxdnem1(IMPC)J HOM   Early adult 0.00
decreased thigmotaxis Pxdnem1(IMPC)J HOM Early adult 4.90×10-09
increased vertical activity Pxdnem1(IMPC)J HOM Early adult 1.48×10-05

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 Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull 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
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Norrie Disease
Optic atrophy, Retinal fold, Microphthalmia, Shallow anterior chamber, Hypoplasia of the iris, Re... OMIM:310600
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Facial Paresis, Hereditary Congenital, 1
Facial palsy, Decreased corneal reflex OMIM:601471
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... ORPHA:1067
Anterior Segment Dysgenesis 5
Developmental cataract, Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasi... OMIM:604229
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract, Generalized hyperpigmentation ORPHA:2253
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Microphthalmia, Cataract, Retinopathy, Cerebra... OMIM:616171
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Lens coloboma, Microspherophakia, Lens subluxation OMIM:157151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hypoplasia of the pons, Optic nerve hypoplasia, Retinal detachment, Cataract, Cer... OMIM:615181
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris coloboma, Reti... ORPHA:1473
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Congenital Primary Aphakia
Microphthalmia, Retinal dysplasia, Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting... ORPHA:83461
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Microphthalmia, Retinal fold, Abnormality... OMIM:251270
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retina... OMIM:212550
Cataract 44
Developmental cataract OMIM:616509
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea, Posterior embryotoxon, Axenfeld anomaly, Foveal hyperpig... OMIM:609218
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the iris, Corneal opac... ORPHA:290
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... ORPHA:69736
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Bornholm Eye Disease
Astigmatism, Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
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
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Chorioretinal coloboma, Optic nerve hypoplasia, Cataract, Cerebellar hypoplasia, C... ORPHA:163937
Oculoauricular Syndrome
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Iris coloboma, Nasolacrimal duct obs... OMIM:612109
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal eyebrow morphology, Retinal detachment, ... ORPHA:85194
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Waardenburg Syndrome, Type 2A
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... OMIM:193510
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Isolated Aniridia
Aniridia, Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Microphthalmia, Isolated 5
Foveoschisis, Microphthalmia, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone s... OMIM:611040
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microcornea, Microphthalmia OMIM:251505
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Abnormality iris morphology, Hypoplasia of the pons, Optic nerve h... ORPHA:370959
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Coloboma, Micr... OMIM:610125
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cardiofaciocutaneous Syndrome 4
Developmental cataract, Optic nerve hypoplasia, Absent eyebrow, Multiple lentigines, Cerebellar h... OMIM:615280
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Immunodeficiency 8
Hyperactivity OMIM:615401
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... OMIM:609049
Winchester Syndrome
Corneal opacity OMIM:277950
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Microcephaly ORPHA:893
Dwarfism, Mental Retardation, And Eye Abnormality
Microcephaly, Nuclear cataract, Hypoplasia of the iris OMIM:223540
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Corneal opacity, Cataract ORPHA:496790
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Developmental cataract, Corneal dystrophy, Aplasia/Hypoplasia of the cerebellum ORPHA:2572
Cataract 9, Multiple Types
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microphthalmia, Isolated 6
Microcornea, Retinal fold, Microphthalmia OMIM:613517
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Microphthalmia, Retinal dysplasia, Coloboma, Ocular anterior segment dysg... ORPHA:324416
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Hypoplasia of the iris, Retinal dystrophy, Iris coloboma... OMIM:222448
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Microc... OMIM:252650
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Bresek Syndrome
Aganglionic megacolon, Microphthalmia, Optic nerve hypoplasia, Alopecia, Iris coloboma, Microcephaly ORPHA:85284
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Microphthalmia, Hypoplasia of the pons, Retinal detachment, Corneal op... OMIM:613153
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Aplasia/Hypoplasia of the cer... ORPHA:1466
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Microcephaly ORPHA:1980
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Alopecia, Abnormal pupil morphology, Corneal opaci... ORPHA:3163
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Cerebellar vermis hypoplasia, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Attenuation of ret... ORPHA:179
Gms Syndrome
Rieger anomaly, Microcephaly ORPHA:2090
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract, Microcephaly OMIM:278780
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Developmental cataract, Microphthalmia,... OMIM:615663
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Agene... OMIM:109120
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... OMIM:610256
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Microcephaly ORPHA:2528
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Dandy-Walker malformation, Linear hyperpigmentation, Microphthalmia, Hypoplasia o... OMIM:613001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Microphthalmia, Retinal dyspl... OMIM:614643
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Macular hypoplasia, Hypopigmentation of hair OMIM:606574
Gillespie Syndrome
Aniridia, Cerebellar hypoplasia, Hypoplasia of the iris OMIM:206700
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Microphthalmia, Tractional retinal detachment, Vitreous floate... ORPHA:891
Nivelon-Nivelon-Mabille Syndrome
Hypoplasia of the iris, Optic disc coloboma, Cerebellar vermis hypoplasia, Nail dysplasia, Microc... OMIM:600092
Morquio Syndrome C
Corneal opacity OMIM:252300
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Morning glory anomaly, Peters anomaly, Optic disc colobom... OMIM:120200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Corneal opacity, Alopecia of scalp, Toenail dysplasia ORPHA:1532
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma... OMIM:270200
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Comedonal acne, Retinal dystrophy, Iris coloboma, Absent foveal refle... OMIM:615147
Warburg Micro Syndrome 3
Optic atrophy, Developmental cataract, Microphthalmia, Shallow anterior chamber, Hypertrichosis, ... OMIM:614222
Otodental Syndrome
Lens coloboma, Microphthalmia, Retinal coloboma, Iris coloboma, Periodontitis, Otitis media with ... ORPHA:2791
Stromme Syndrome
Microphthalmia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Iris coloboma, Cerebellar v... OMIM:243605
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Microphthalmia, Myopic astigmatism, Chorioretinal dysplasia, Chorior... OMIM:152950
Congenital Varicella Syndrome
Microcephaly, Microphthalmia, Cataract, Cerebral cortical atrophy ORPHA:291
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... OMIM:601706
Warburg Micro Syndrome 1
Optic atrophy, Developmental cataract, Microphthalmia, Hypertrichosis, Facial hypertrichosis, Cer... OMIM:600118
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Iris coloboma, Bilateral microphthalmos OMIM:611638
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma, Abnor... ORPHA:3378
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Microphthalmia, Cataract, Sparse hair, Microcephaly OMIM:610756
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, ... ORPHA:401777
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... ORPHA:231736
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Hypoplasia of the iris, Ocular albinism, Hypopigmentatio... OMIM:611584
Idiopathic Uveal Effusion Syndrome
Retinal fold, Microphthalmia, Exudative retinal detachment, Abnormal anterior eye segment morphol... ORPHA:209956
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Immunodeficiency 10
Nail dysplasia, Hypoplasia of the iris OMIM:612783
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Corneal opacity, Irregular hyperpigmentation, Cataract, Skin ... ORPHA:317
Adams-Oliver Syndrome 2
Optic atrophy, Developmental cataract, Small nail, Microphthalmia, Low anterior hairline, Cerebel... OMIM:614219
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Optic atrophy, Buphthalmos, Microphthalmia, Retinal dysplasia, Optic n... OMIM:236670
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Low anterior hairline, Iridodonesis, Megalocornea, Cerebral cortical atro... OMIM:249310
Gms Syndrome
Rieger anomaly, Microcephaly OMIM:138770
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Microcephaly, Fair hair OMIM:618808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Optic atrophy, Retinal dysplasia, Hypoplasia of the pons, Cataract OMIM:613154
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Chondrodysplasia-Disorder Of Sex Development Syndrome
Microcephaly, Cerebral hypoplasia, Chorioretinal coloboma, Hypoplasia of the iris ORPHA:1422
2Q24 Microdeletion Syndrome
Coloboma, Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Phace Association
Dandy-Walker malformation, Optic atrophy, Developmental cataract, Microphthalmia, Horner syndrome... OMIM:606519
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Chorioretinal coloboma, Sclerocornea, Anophthalmia, Retinal dystrophy, Iris colob... ORPHA:139471
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea, Astigmatism, Abnormal anterior chamber morpho... ORPHA:2479
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Microphthalmia, Retinal non... OMIM:221900
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation... OMIM:126070
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Exudative vitreoretinopathy, Retinal detachment, Corneal opacity, Abnormal vitreo... ORPHA:2788
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Inflammatory abnormality ... ORPHA:39044
Galloway-Mowat Syndrome 1
Dandy-Walker malformation, Optic atrophy, Small nail, Microphthalmia, Hypoplasia of the iris, Hyp... OMIM:251300
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Nance-Horan Syndrome
Retinal detachment, Microcornea, Microphthalmia, Cataract ORPHA:627
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Astigmatism, Optic nerve hypoplasia, Hyperopic astigmatism ORPHA:363686
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of the skin, Chorioretin... OMIM:619165
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Microphthalmia, Cataract OMIM:120433
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Astigmatism, Agenesis of corpus callosum, Microcephaly, C... OMIM:609053
Congenital Microcoria
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... ORPHA:566
Phace Syndrome
Dandy-Walker malformation, Lens coloboma, Microphthalmia, Retinal vascular malformation, Scleroco... ORPHA:42775
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Macular degeneration, Peripapillary atrophy OMIM:618195
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Peters anomaly, Iris coloboma, Coloboma, Ocular anterior segment dysgenesis OMIM:610023
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Sclerocornea, Iris coloboma, Retinal detachment, Microcornea, Ocular anterior seg... OMIM:615145
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Mic... ORPHA:91495
Vitreoretinochoroidopathy
Microphthalmia, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhag... OMIM:193220
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microcephaly OMIM:615771
Short Syndrome
Rieger anomaly, Cataract, Megalocornea OMIM:269880
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Optic atrophy, Partial agenesis of the corpus callosum, Sparse eyelas... OMIM:234050
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Aniridia 2
Aniridia, Cataract OMIM:617141
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia, Syndromic 13
Coloboma, Microcornea, Microphthalmia, Microcephaly OMIM:300915
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Mucolipidosis Type Iii
Corneal opacity, Acne ORPHA:577
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Rod-cone dystrophy, Macular degeneration, Cataract, Cerebral atrophy OMIM:204200
Waardenburg Syndrome, Type 1
Blue irides, Partial albinism, Hypoplastic iris stroma, Hypopigmentation of the fundus, White eye... OMIM:193500
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Dubowitz Syndrome
Eczema, Microphthalmia, Hypoplasia of the iris, Sparse lateral eyebrow, Rod-cone dystrophy, Iris ... OMIM:223370
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Nail-Patella Syndrome
Anonychia, Glomerulonephritis, Lester's sign, Microphakia, Ridged nail, Antecubital pterygium, Ca... OMIM:161200
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Posterior embryotoxon ORPHA:782
Duane Retraction Syndrome
Hypopigmented skin patches, Patchy hypopigmentation of hair, Chorioretinal coloboma, Aniridia, Hy... ORPHA:233
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Retinal arteriolar tortuosity, Microphthalmia, Polycoria, Hypoplasia of t... OMIM:175780
Kniest Dysplasia
Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Vitreoretinopathy, Degenerativ... ORPHA:485
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Hurler-Scheie Syndrome
Rhinitis, Abnormal nerve conduction velocity, Corneal opacity, Generalized hirsutism ORPHA:93476
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small nail, Hirsutism, Global brain atrophy, Optic nerve hypoplasia, Corneal opacity, Cerebellar ... OMIM:301056
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Motor axonal neuropathy, Long eyelashes, Cataract, Abnormality of peripheral nerv... ORPHA:48431
Cockayne Syndrome B
Peripheral dysmyelination, Optic atrophy, Abnormal auditory evoked potentials, Microphthalmia, Ab... OMIM:133540
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Pneumonia, Hyperpigmentation of the skin, Nail dystrophy, Alopecia, Atri... ORPHA:1867
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cer... ORPHA:65
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:195
Walker-Warburg Syndrome
Dandy-Walker malformation, Abnormality of the optic nerve, Optic atrophy, Microphthalmia, Retinal... ORPHA:899
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Retinopathy, Microcephaly ORPHA:578
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Norrie Disease
Optic atrophy, Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia le... ORPHA:649
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Cystoid macular ... OMIM:267760
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Coarse hair, Corneal opacity, Thick eyebrow, ... ORPHA:585
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Sialidosis Type 2
Corneal opacity, Abnormal macular morphology ORPHA:87876
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Warburg Micro Syndrome 2
Optic atrophy, Developmental cataract, Microphthalmia, Low anterior hairline, Global brain atroph... OMIM:614225
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... ORPHA:370097
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Sensory axonal neuropathy ORPHA:329314
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Chronic otitis media, Optic nerve hypoplasia, Abnormal hair pattern, Astig... ORPHA:261250
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Cataract, Fundus atrophy, Pigmentary retinopathy, Keratoconus OMIM:204100
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy... OMIM:604393
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Iris coloboma, Cataract, Microcornea, Agene... ORPHA:3301
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:619639
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Rieger anomaly, Retinal detachment, Primary congenital glaucoma, Microcephaly ORPHA:521445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Retinal degeneration, Abnormally large globe, Hypoplasia of the brainstem, Progre... OMIM:615249
Focal Dermal Hypoplasia
Microphthalmia, Chorioretinal coloboma, Hypoplasia of the iris, Ectopia lentis, Abnormality of sk... ORPHA:2092
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract, Generalized hypertrichosis ORPHA:1383
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Oliver-Mcfarlane Syndrome
Peripheral axonal neuropathy, Retinal degeneration, Alopecia, Long eyelashes, Central heterochrom... OMIM:275400
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Temtamy Syndrome
Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:1777
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Sparse eyebrow, Corneal opacity, Cataract, Coloboma, Bila... ORPHA:2399
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Dandy-Walker malformation, Buphthalmos, Broad eyebrow, Hirsutism, Low... ORPHA:495875
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia, Hypoplasia of the iris ORPHA:169090
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Corneal opacity OMIM:618815
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... ORPHA:41751
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia, Microcephaly OMIM:616335
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Anxiety, Depression OMIM:159900
Trisomy 12P
Thick eyebrow, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye, Supernumerar... ORPHA:1699
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... OMIM:180500
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Tietz Albinism-Deafness Syndrome
Blue irides, Generalized hypopigmentation, Hypopigmentation of the fundus, White eyelashes, White... OMIM:103500
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Corneal opacity, Sparse and thin eyebrow, Sparse hair, Blep... OMIM:602400
Late-Onset Retinal Degeneration
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Rieger anomaly, Sparse scalp hair, Hypoplasia of the corpus callosum, Micr... OMIM:270450
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Hirsutism, Cataract, Cerebellar hypoplasia, Agenesis of corpus callosum, Microcep... OMIM:214150
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Corneal opacity, ... OMIM:614594
Distal 7Q11.23 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Bipolar affective disorder ORPHA:254351
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
3Q29 Microduplication Syndrome
Microphthalmia, Sclerocornea, Aniridia, Iris coloboma, Cataract, Microcephaly ORPHA:251038
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmenta... ORPHA:54
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pneumonia, Subcortical cerebral atrophy, Corneal opacity, Cataract, Cerebral c... ORPHA:309288
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma ORPHA:1064
Intermediate Uveitis
Psoriasiform dermatitis, Tubulointerstitial nephritis, Vitreous floaters, Macular edema, Anterior... ORPHA:279914
Linear Verrucous Nevus Syndrome
Dandy-Walker malformation, Sparse scalp hair, Iris coloboma, Aplasia/Hypoplasia of the corpus cal... ORPHA:2611
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Sclerocornea, Anophthalmia, Long eyelashes, Cataract, Coloboma, Microcornea, Ecto... OMIM:615877
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Hypopigmentation ... OMIM:203200
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Retinal detachment, ... ORPHA:3437
Lissencephaly 5
Optic atrophy, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Hypoplasia of the ... OMIM:615191
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Microphthalmia, Antecubital pterygium, Corneal opacity, Axillary pterygium OMIM:619339
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Trichothiodystrophy 5, Nonphotosensitive
Dandy-Walker malformation, Tiger tail banding, Retinal dystrophy, Optic nerve hypoplasia, Global ... OMIM:300953
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Global brain atrophy, Aplasia/Hypoplasia of the nails, Frontal cortical atrophy, ... ORPHA:2714
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hypoplasia of the fovea, Cherry red spot of the macula, Co... ORPHA:93400
Craniotelencephalic Dysplasia
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Cerebellar hypoplasia, Agenesis of corpu... OMIM:218670
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Aplasia/Hypoplasia of the corpus callosum, Cataract, Cerebral cortical atrophy... ORPHA:3173
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Juvenile Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Corneal opacity, Generalized hypertrichosis, Cataract ORPHA:93399
Proboscis Lateralis
Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic nerve hypoplasia, Cyclopia, Abnormal ... ORPHA:141099
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Fine hair, Microphthalmia, Sclerocornea, Abnormality of skin pigmenta... ORPHA:1806
Papillorenal Syndrome
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... OMIM:120330
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Microcephaly OMIM:617914
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Lissencephaly 8
Optic atrophy, Hypoplasia of the brainstem, Cataract, Hypoplasia of the corpus callosum, Microcep... OMIM:617255
Juvenile Glaucoma
Abnormality of the optic nerve, Optic neuropathy, Temporal optic disc pallor, Abnormality iris mo... ORPHA:98977
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma OMIM:169550
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Oculomaxillofacial Dysostosis
Corneal opacity, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash ... ORPHA:1794
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
D-Lactic Aciduria With Gout
Aniridia, Microcephaly OMIM:245450
Dystonia 12
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression OMIM:128235
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Microphthalmia, Lens subluxation, Retinal a... ORPHA:85167
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract OMIM:270800
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Abnormal pupil morphology, Peripheral axonal neuropathy, Decreased ner... ORPHA:101082
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Optic nerve hypoplasia, Cataract ORPHA:79345
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Marfan Syndrome
Arthralgia/arthritis, Flat cornea, Hypoplasia of the iris, Lens subluxation, Ectopia lentis, Reti... ORPHA:558
Rodrigues Blindness
Fine hair, Microphthalmia, Sclerocornea, Microcornea, Sparse hair OMIM:268320
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Microcornea, Macular atrophy OMIM:602499
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Microcephaly OMIM:601349
Sialidosis Type 1
Cherry red spot of the macula, Decreased nerve conduction velocity, Corneal opacity, Cataract, Re... ORPHA:812
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Aplasia/Hypoplasia affecting the eye ORPHA:1643
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Incontinentia Pigmenti
Atrophic, patchy alopecia, Hypoplastic nipples, Uveitis, Sparse hair, Breast hypoplasia, Supernum... OMIM:308300
Meckel Syndrome
Dandy-Walker malformation, Optic atrophy, Microphthalmia, Anencephaly, Sclerocornea, Anophthalmia... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Agenesis of corpus callosum, Anencephaly, Retinal dysplasia, Hypoplasi... OMIM:615287
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy, Corpus callosum atrophy, Cataract OMIM:614877
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia, Retinal coloboma, Cerebellar ... ORPHA:2510
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Freckling, Decreased nerve conduction velocity, Cataract, Pigmenta... OMIM:610651
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... ORPHA:209959
Curry-Jones Syndrome
Hypopigmented skin patches, Microphthalmia, Optic disc coloboma, Iris coloboma, Generalized hirsu... ORPHA:1553
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Generalized hypopigmentation, Iris transillumination defect... ORPHA:352731
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormality of the optic nerve, Aniridia, Anophthalmia, Corneal dystrophy, Abnormal vitreous humo... ORPHA:1101
Loose Anagen Syndrome
Abnormal hair whorl, Abnormal hair morphology, Iris coloboma ORPHA:168
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Fingernail dysplasia, Ectopia lentis ORPHA:1259
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Microphthalmia, Cataract, Cerebellar hypoplasia OMIM:618805
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Frontal cortical atrophy, Thick eyebrow, H... ORPHA:228384
Pierpont Syndrome
High anterior hairline, Microcornea, Microphthalmia, Primary microcephaly ORPHA:487825
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Microphthalmia, Ectopia lentis, Iris coloboma, Retinal detachment, Catarac... ORPHA:2712
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Abnorma... ORPHA:42665
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Scarring alopecia of scalp, Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia ORPHA:35612
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Developmental cataract, Retinal dystrophy, Facial palsy, Cerebellar hypoplasia, Hypoplasia of the... OMIM:613155
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Frontofacionasal Dysplasia
Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma, Absent inner eyelashes, Cataract... ORPHA:1791
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Microphthalmia, Cataract, Microcephaly OMIM:614105
Alpha-Mannosidosis
Chronic otitis media, Arthritis, Corneal opacity, Cataract ORPHA:61
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Astigmatism, Retinal detachment, Cataract ORPHA:250984
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Recurrent otitis media, Keratitis, Corneal opacity, Thick eyebrow, Synophrys OMIM:602562
Gluteal Muscles, Absence Of
Optic nerve hypoplasia OMIM:231970
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Low anterior hairline, Hypoplasia of the pons, Optic nerve hypoplasia,... OMIM:618736
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:612572
Marfan Syndrome
Hypoplasia of the iris, Ectopia lentis, Premature osteoarthritis, Microspherophakia, Retinal deta... OMIM:154700
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria, Microcephaly OMIM:257910
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Microphthalmia, Isolated 8
Coloboma, Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615113
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Refsum Disease
Abnormality of retinal pigmentation, Microphthalmia, Nail dysplasia, Cataract, Retinopathy ORPHA:773
Oculocerebral Hypopigmentation Syndrome, Cross Type
Dandy-Walker malformation, Choroideremia, Ocular albinism, Microcephaly, Corneal opacity, Catarac... ORPHA:2719
Incontinentia Pigmenti
Abnormal hair morphology, Dystrophic toenail, Uveitis, Abnormal fingernail morphology, Abnormal c... ORPHA:464
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum, Microphthalmia, Cataract ORPHA:93267
Pierpont Syndrome
Microphthalmia, Abnormal peripheral nervous system morphology, High anterior hairline, Microcorne... OMIM:602342
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Microcephaly OMIM:613638
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia ORPHA:1574
Srd5A3-Cdg
Optic atrophy, Hypertrichosis, Optic disc hypoplasia, Rod-cone dystrophy, Spotty hyperpigmentatio... ORPHA:324737
Frontonasal Dysplasia 1
Microphthalmia, Cataract, Coloboma, Widow's peak, Agenesis of corpus callosum OMIM:136760
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Hypoplasia of the brainstem, Agenesis of corpus callosum ORPHA:250972
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Nephroblastoma
Aniridia ORPHA:654
Zellweger Syndrome
Optic atrophy, Posterior embryotoxon, Brushfield spots, Corneal opacity, Cataract, Abnormal chori... ORPHA:912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Retinal dystrophy, Cerebellar vermis hypoplasia, Cataract, Hypoplasi... OMIM:616538
Congenital Hydrocephalus
Macular hypoplasia, Optic atrophy, Iris coloboma ORPHA:2185
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Cerebral atrophy, Coloboma, Agenesis of corpus callosum, Microcephaly OMIM:274270
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Microcephaly OMIM:616603
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Anterior polar cataract, Posterior embryotoxon, Hypoplasia of the iris, High anterior hairline, H... OMIM:619194
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Griscelli Syndrome Type 1
Partial albinism, White hair, Iris hypopigmentation, Retinopathy, Premature graying of hair ORPHA:79476
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Broad eyebrow, Chorioretinal coloboma, Microphthalmia, Peters anomaly, Iris colobo... ORPHA:494344
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Abnormal hair morphology, Bilateral microphthalmos, Hyperpigmented nevi OMIM:607597
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Marginal corneal dystrophy, Chorioretinal atrophy OMIM:210370
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Attention deficit hyperactivity disorde... OMIM:605361
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Zika Virus Disease
Macular atrophy, Infectious encephalitis, Lens subluxation, Optic disc hypoplasia, Abnormality of... ORPHA:448237
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Aplasia/Hypoplasia of the corpus callosum, Cataract, Retinal dysplasia ORPHA:272
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Iris coloboma, Cataract, Low posterior hairline OMIM:244300
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Irregular hyperpigmentation, Retinopathy, Generalized hirsutism, Microcornea, Mic... ORPHA:2505
Craniotelencephalic Dysplasia
Optic atrophy, Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Cerebellar hypoplasia, Age... ORPHA:1528
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:617864
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Low anterior hairline, Optic nerve hypoplasia, Long eyelashes, Primary mic... OMIM:618828
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma, Horizontal eyebrow, Inferior vermis hypoplasia, Cataract, Astig... OMIM:618571
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:615434
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Osteoarthritis, Cataract ORPHA:90653
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve ORPHA:137634
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypertrichosis, Retinal coloboma, Optic nerve hypoplasia, Abnormality of the opti... ORPHA:508498
Huntington Disease-Like 2
Dystonia, Apathy, Bradykinesia, Irritability, Anxiety, Depression OMIM:606438
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment, Cataract OMIM:604841
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Diffuse cerebral atrophy OMIM:230650
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum, Microcephaly OMIM:614833
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Hypoplasia of the retina, Cataract, Retinal dystrophy OMIM:263100
Multiple Sulfatase Deficiency
Peripheral demyelination, Corneal opacity, Retinal degeneration, Cerebral atrophy OMIM:272200
Spondyloepiphyseal Dysplasia, Nishimura Type
Retinal detachment, Hypopigmentation of the fundus, Microphthalmia, Cataract ORPHA:163649
8Q21.11 Microdeletion Syndrome
Eczema, Microphthalmia, Sclerocornea, Corneal opacity, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:284160
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Histiocytoid Cardiomyopathy
Optic atrophy, Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea, Agenesis of cor... ORPHA:137675
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Microcephaly, Cataract, Hypoplasia of the corpus callosum, Cerebral cortical atrophy OMIM:617481
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly OMIM:618012
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Aganglionic megacolon, Abnormal eyebrow morphology, Heterochromia iri... ORPHA:2885
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone dystrophy OMIM:612674
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Retinopathy of prematurity, Infectious encephalitis, Optic nerv... ORPHA:447788
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Heterochromia iridis, Abnormal pupil mor... ORPHA:1764
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly OMIM:616734
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Microphthalmia, Lenz Type
Chorioretinal coloboma, Microphthalmia, Optic disc coloboma, Iris coloboma, Aplasia/Hypoplasia of... ORPHA:568
Bartsocas-Papas Syndrome
Popliteal pterygium, Alopecia totalis, Corneal opacity, Sparse or absent eyelashes, Hypoplastic t... ORPHA:1234
Mietens Syndrome
Sclerocornea, Corneal opacity, Cataract, Microcornea, Microcephaly ORPHA:2557
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Aganglionic megacolon, Heterochromia iridis, White forelock, Hypopigm... ORPHA:895
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretin... ORPHA:414
Retinitis Pigmentosa 77