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Gene: Pxdn MGI:1916925

Gene Summary

Name:

peroxidasin

Synonyms:

VPO1, 2310075M15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased thigmotaxis	Pxdn^em1(IMPC)J	HOM	Early adult	2.57×10^-09
preweaning lethality, incomplete penetrance	Pxdn^em1(IMPC)J	HOM	Early adult	0.00
hyperactivity	Pxdn^em1(IMPC)J	HOM	Early adult	6.14×10^-17
increased vertical activity	Pxdn^em1(IMPC)J	HOM	Early adult	4.01×10^-05

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X-ray

XRay Images Whole Body Lateral Orientation

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Auditory Brain Stem Response

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

7 Images

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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.

Human diseases associated with Pxdn (1 diseases)
Human diseases predicted to be associated with Pxdn (1137 diseases)

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	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	ORPHA:2328
Septooptic Dysplasia	Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat...	ORPHA:2969
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Opacification of the corneal stroma	OMIM:230650
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo...	ORPHA:2885
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop...	ORPHA:79432
Antiphospholipid Syndrome, Familial	Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Scleritis, Retinal vas...	OMIM:107320
Humero-Radial Synostosis	Aplasia/Hypoplasia affecting the eye, Iris coloboma, Chorioretinal coloboma, Microcephaly	ORPHA:3265
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of...	ORPHA:895
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hypoplasia of the brainste...	OMIM:615771
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Corneal opacity, Hypopigmented skin patches, Aplasia/Hy...	ORPHA:1647
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes, Mi...	OMIM:615877
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi...	ORPHA:280921
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Iris coloboma, Chorioretinal coloboma	OMIM:617662
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cranial ...	ORPHA:29072
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior	OMIM:619470
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hypoplasia of the pons, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior ...	OMIM:613154
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve...	OMIM:186580
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Pigmentary retinopathy, Hypoplasia of the corpus callosum, Microphthalmia	OMIM:614230
Abruzzo-Erickson Syndrome	Microcornea, Coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:921
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613265
Fish-Eye Disease	Corneal opacity	ORPHA:79292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Hypoplasia of the pyramidal tract, Optic atrophy, Hypoplasia of the...	OMIM:253800
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Optic nerve hypoplasia	ORPHA:65288
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Cataract, Microcephaly, Recurrent pneumonia, Cerebellar hypoplasia, Mic...	OMIM:214150
Squalene Synthase Deficiency	Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Abnormality of hair pigmentation	OMIM:618156
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Scheie Syndrome	Abnormal nerve conduction velocity, Rhinitis, Corneal opacity	ORPHA:93474
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormally large...	OMIM:300749
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Highly arched eyebrow, Developmental cataract, Hypoplasia of the corp...	OMIM:618804
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy	OMIM:616947
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Trichothiodystrophy 1, Photosensitive	Cataract, Brittle hair, Trichoschisis, Freckling, Microcephaly, Fine hair, Microcornea, Keratocon...	OMIM:601675
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, O...	OMIM:609033
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Agenesis of pineal gland, Corneal opacity, Optic nerve hypoplasia, Posterior s...	ORPHA:536471
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Developmental cataract, Microphthalmia, Tiger tail banding, Trichorrhexis...	OMIM:616395
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Mi...	ORPHA:35173
Chromosome Xp11.3 Deletion Syndrome	Cataract, Microcephaly, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Ro...	OMIM:300578
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, ...	OMIM:256800
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Microcephaly, Low posterior hairline, Chorioretinal coloboma, Microphthalm...	OMIM:243310
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Corneal opacity, Thick hair, Abnormal cornea morphology, Secondary ...	ORPHA:357058
Mucopolysaccharidosis Type 1	Sinusitis, Corneal opacity, Optic atrophy, Low anterior hairline, Chronic otitis media, Retinopat...	ORPHA:579
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Microcephaly, Sy...	ORPHA:2884
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c...	OMIM:214110
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Blepharitis,...	ORPHA:163934
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Tatton-Brown-Rahman Syndrome	Horizontal eyebrow, Optic nerve hypoplasia, Thick eyebrow	OMIM:615879
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M...	OMIM:617914
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A...	ORPHA:85410
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brittle hair, Highly ...	OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia	OMIM:614830
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis, Developmental cataract	OMIM:617044
Tyrosinemia Type 2	Corneal opacity, Abnormality of the nail, Microcephaly	ORPHA:28378
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh...	OMIM:172800
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism	OMIM:252600
Revesz Syndrome	Leukocoria, Nail pits, Fine, reticulate skin pigmentation, Fine hair, Exudative retinopathy, Nail...	OMIM:268130
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Cataract, Optic atrophy	ORPHA:588
Gombo Syndrome	Microphthalmia, Microcephaly	OMIM:233270
Gm1 Gangliosidosis	Corneal opacity, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity,...	ORPHA:354
Neurotrophic Keratopathy	Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem...	ORPHA:137596
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashes, Small nail, Microphthalmia	OMIM:201180
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Chronic mucocutan...	ORPHA:3453
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Eczema, Microcephaly, Hypopigmentation of the skin	ORPHA:79254
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystroph...	ORPHA:2526
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Microphthalmia, Agenesis of corpus callosum, Iris coloboma	ORPHA:77298
Joubert Syndrome 22	Agenesis of cerebellar vermis, Temporal cortical atrophy, Coloboma, Retinal dysplasia, Hypoplasia...	OMIM:615665
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Microphthalmia, Developmental cataract	OMIM:127000
Lcat Deficiency	Corneal opacity	ORPHA:650
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis	ORPHA:382
Cutis Laxa, Autosomal Dominant 3	Microcephaly, Corneal opacity, Developmental cataract	OMIM:616603
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Microcephaly, Pigmentary retinopathy, Peters anomaly, Microphthalmia, Age...	OMIM:309801
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal...	ORPHA:90354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum...	OMIM:253280
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Farber Disease	Corneal opacity, Arthritis, Abnormal conjunctiva morphology, Macular degeneration, Opacification ...	ORPHA:333
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Aplasia/Hypoplasia of the cerebellum, Optic nerve hypoplasia	ORPHA:572013
Distal Deletion 13Q	Microcephaly, Optic atrophy, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypo...	ORPHA:1590
Tangier Disease	Peripheral axonal neuropathy, Facial diplegia, Nail dystrophy, Nail dysplasia, Opacification of t...	OMIM:205400
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Hurler Syndrome	Corneal opacity, Hirsutism, Opacification of the corneal stroma, Recurrent otitis media, Retinal ...	OMIM:607014
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Facial hirsutism, Hydranencephaly, Iris ...	ORPHA:2839
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia, Hypoplasia of the corpus callosum	OMIM:615033
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Alopecia, Corneal opacity, Coloboma	OMIM:163200
Weill-Marchesani Syndrome 1	Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis	OMIM:277600
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb...	ORPHA:248111
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy, Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal s...	OMIM:612582
Xeroderma Pigmentosum, Complementation Group D	Cataract, Microcephaly, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Co...	OMIM:278730
Encephalocraniocutaneous Lipomatosis	Alopecia, Corneal opacity, Abnormal eyelash morphology, Cerebral atrophy, Agenesis of corpus call...	ORPHA:2396
Lennox-Gastaut Syndrome	Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Congenital Fibrinogen Deficiency	Microphthalmia, Abnormality of the subungual region, Developmental cataract	ORPHA:335
Lowry-Maclean Syndrome	Corneal opacity, Microcephaly, Developmental glaucoma, Aplasia/Hypoplasia of the corpus callosum,...	ORPHA:2409
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair	OMIM:229200
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Supernumerary nipple, Facial palsy, Sparse eyebrow, Microcephaly, Optic a...	ORPHA:261349
19P13.13 Microdeletion Syndrome	Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Long eyelashes, Hypoplasia of the...	ORPHA:357001
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Mi...	OMIM:267750
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Aplasia/Hypoplasia affecting the eye, Microcephaly	ORPHA:2323
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior	OMIM:612716
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Microcephaly, Abnormal ...	ORPHA:193
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Hurler-Scheie Syndrome	Corneal opacity, Hirsutism	OMIM:607015
Al-Gazali Syndrome	Recurrent pneumonia, Corneal opacity, Sclerocornea	OMIM:609465
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Hurler Syndrome	Corneal opacity, Abnormality of skin pigmentation, Rhinitis, Abnormal nerve conduction velocity, ...	ORPHA:93473
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcephaly, Recurrent pneumonia, Cerebral atrophy, Microcornea, Hypoplasia of the cor...	OMIM:616449
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the...	OMIM:612513
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Cataract, Alopecia, Iridocyclitis, Chronic mucocuta...	OMIM:240300
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Cerebellar vermis hypoplasia, Sclerocornea, Microcephaly, Sparse eye...	OMIM:619869
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Delayed peripheral myelination, Microcephaly, Synophrys, Thin eyebrow, Small nai...	ORPHA:364577
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Cessation of head growth, Hypopigmentation of the skin, Iris hypopigmen...	ORPHA:411515
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Microcephaly, Partial absence of cerebellar vermis, Buphthalmos, Hypoplasia of the brai...	OMIM:613150
D-Glyceric Aciduria	Cerebral cortical atrophy, Optic nerve hypoplasia, Microcephaly	OMIM:220120
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Frontorhiny	Cataract, Widow's peak, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Iris coloboma	ORPHA:391474
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Microcornea, Colobom...	ORPHA:959
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Sparse eyelashes, Fine hair, Microcornea, Persistent pupillary membrane, Sparse hair, M...	OMIM:257850
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Chorioretinitis, Patchy alopecia, Iriti...	OMIM:109650
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Fucosidosis	Corneal opacity, Abnormality of the nail	ORPHA:349
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Generalized hirsutism	ORPHA:2095
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Cerebral cortical atrophy, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:617864
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Hy...	ORPHA:300570
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Microcephaly, Optic atrophy, Anisocoria, Abnormal autonomic nervous syst...	OMIM:231550
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Septo-Optic Dysplasia Spectrum	Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Agenesis of corpus callosum, Optic n...	ORPHA:3157
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Anophthalmia, Brittle hair, Absent fingernail, Chorioretin...	OMIM:305600
Mucopolysaccharidosis Type 3	Cataract, Corneal opacity, Thick hair, Synophrys, Optic atrophy, Hirsutism, Pigmentary retinopath...	ORPHA:581
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Landau-Kleffner Syndrome	Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio...	ORPHA:98818
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj...	OMIM:158310
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Psoriasiform dermatitis, Lacrimal duct stenosis, Optic nerve hypoplasia, Low posterior hairline, ...	ORPHA:221139
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Microcephaly, Developmental cataract, Vitreous hemorrhag...	OMIM:620185
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Microcephaly, Phthisis bulbi, Retinal calcification, Exudative retinopath...	OMIM:259770
Muckle-Wells Syndrome	Episcleritis, Skin rash, Optic atrophy, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous st...	ORPHA:575
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Secondary microcephaly, Coloboma, Peters anomaly	OMIM:618652
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ...	OMIM:614077
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Sparse hair, Microp...	OMIM:601812
Fanconi Anemia	Cataract, Aganglionic megacolon, Microcephaly, Hypopigmented skin patches, Aplasia/Hypoplasia of ...	ORPHA:84
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Highly arched eyebrow, Microcephaly, Nail dystrophy, Hypoplasia of the corpus ...	OMIM:300887
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz...	ORPHA:636
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Widow's peak, Coloboma, Microphthalmia, Conjunctival hyperemia	OMIM:167730
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle...	ORPHA:2556
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Anophthalmia, Hypermelanotic macule, Optic atrophy...	ORPHA:90321
Cockayne Syndrome Type 3	Optic disc pallor, Dry hair, Cataract, Retinal atrophy, Retinal dystrophy, Peripheral axonal neur...	ORPHA:90324
Jacobsen Syndrome	Microcephaly, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstruction, Microcor...	OMIM:147791
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Gand Syndrome	Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Cockayne Syndrome Type 2	Anophthalmia, Hypermelanotic macule, Uveitis, Developmental cataract, Conjunctivitis	ORPHA:90322
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Optic nerve hypoplasia, Highly arched eyebrow, Lacrimal duct steno...	OMIM:617506
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia o...	OMIM:615574
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Eczema, Olivopontocerebellar hypoplasia, Hypoplasia of...	ORPHA:468631
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar...	ORPHA:101085
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Retinal coloboma, Microphth...	OMIM:607323
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly	OMIM:616570
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors	OMIM:619467
Fg Syndrome Type 1	Frontal upsweep of hair, Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:93932
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Trisomy 18	Abnormality of retinal pigmentation, Cataract, Cyclopia, Microcephaly, Anencephaly, Aplasia/Hypop...	ORPHA:3380
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Aicardi Syndrome	Retinal detachment, Cataract, Cerebellar vermis hypoplasia, Microcephaly, Chorioretinal lacunae, ...	OMIM:304050
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Hallermann-Streiff Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Microcephaly, Sparse eyebrow, Optic disc coloboma,...	OMIM:234100
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Small nail	ORPHA:250999
De Barsy Syndrome	Cataract, Corneal opacity, Cerebellar vermis hypoplasia, Sparse hair, Progressive microcephaly, A...	ORPHA:2962
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Choroidal neovascularization, Pa...	ORPHA:91500
Mucopolysaccharidosis Type 7	Corneal opacity, Hepatitis	ORPHA:584
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Oculodentodigital Dysplasia	Curly hair, Cataract, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Aplasia/Hy...	ORPHA:2710
Wilson Disease	Kayser-Fleischer ring, Acute hepatitis, Hepatitis, Arthritis	ORPHA:905
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Microphth...	OMIM:302960
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Monosomy 13Q14	Cataract, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Iris coloboma, Retinob...	ORPHA:1587
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Moebius Syndrome	Corneal opacity, Facial palsy, Breast aplasia, Multiple cafe-au-lait spots, Blepharitis	ORPHA:570
Chime Syndrome	Corneal opacity, Fine hair, Retinal coloboma, Sparse hair, Cerebral cortical atrophy	ORPHA:3474
Intellectual Developmental Disorder, Autosomal Recessive 74	Hyperactivity	OMIM:617169
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Microcornea, Hypoplastic nipples, Hypoplasia of the corpus callosum, Microphthalmia...	OMIM:156610
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus, Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the...	ORPHA:2612
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo...	ORPHA:894
Gomez-Lopez-Hernandez Syndrome	Agenesis of cerebellar vermis, Alopecia, Cerebellar vermis hypoplasia, Opacification of the corne...	OMIM:601853
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism, Microcephaly	ORPHA:1352
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Partial agenesis of the corpus ca...	ORPHA:33364
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Aplasia/Hypoplasia of the cerebellum, Generalized hypopigm...	ORPHA:2720
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Adams-Oliver Syndrome	Alopecia, Cataract, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Microphthalmia,...	ORPHA:974
Fryns Syndrome	Aganglionic megacolon, Corneal opacity, Microphthalmia, Agenesis of corpus callosum, Cerebral cor...	ORPHA:2059
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Corneal opacity, Microcephaly, Astigmatism, Hypoplasia of ...	ORPHA:464311
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Hypoplasia of the corpus callosu...	OMIM:603671
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation, Microcephaly	ORPHA:858
Trisomy 9P	Microcephaly, Hypoplastic toenails, Abnormal pupil morphology, Fingernail dysplasia, Hypoplastic ...	ORPHA:236
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Agenesis of corpus callosum, Hyperpigmented streaks, Sclerocornea	OMIM:300952
Alpha-Mannosidosis, Infantile Form	Optic disc pallor, Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Subcortical cereb...	ORPHA:309282
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Wolf-Hirschhorn Syndrome	Rieger anomaly, Highly arched eyebrow, Microcephaly, Low posterior hairline, Hyperconvex fingerna...	OMIM:194190
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Cerebral atrophy, Partial agenesis of the corpus callosum, Astigmatism, Optic nerve dysplasia	OMIM:617296
Werner Syndrome	Alopecia of scalp, Cataract, Retinal degeneration	OMIM:277700
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia, Highly arched eyebrow, Sparse pubic hair	OMIM:110100
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Hypermelanotic macule, Microcephaly, Keratitis, ...	ORPHA:910
2Q31.1 Microdeletion Syndrome	Microcephaly, Hypoplastic toenails, Abnormal hair morphology, Synophrys, Optic disc coloboma, Low...	ORPHA:251014
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Corneal opacity, Onychogryposis, Depigmentation/hyperpigment...	ORPHA:79396
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow	OMIM:248340
Vacterl With Hydrocephalus	Microcornea, Microphthalmia, Anophthalmia, Abnormal optic nerve morphology	ORPHA:3412
Oculodentodigital Dysplasia	Dry hair, Cataract, Slow-growing hair, Microcephaly, Uveitis, Fine hair, Microcornea, Sparse hair...	OMIM:164200
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Microcephaly, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Caf...	OMIM:618874
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Mosaic Trisomy 8	Hypopigmentation of the skin, Agenesis of corpus callosum, Corneal opacity, Hypopigmented skin pa...	ORPHA:96061
3Q29 Microdeletion Syndrome	Abnormality of skin pigmentation, Microphthalmia, Cataract, Microcephaly	ORPHA:65286
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Corneal opacity, Eczema, Microcephaly, Hypoplasia of the brainstem, Astigmatis...	ORPHA:464306
Martsolf Syndrome 1	Cataract, Microcephaly, Low anterior hairline, Developmental cataract, Low posterior hairline, Mi...	OMIM:212720
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Corneal opacity, Nail dystrophy	ORPHA:31150
Pseudo-Torch Syndrome 1	Cataract, Cerebellar hypoplasia, Opacification of the corneal stroma, Microcephaly	OMIM:251290
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Mycophenolate Mofetil Embryopathy	Hypoplastic toenails, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum, Iris c...	ORPHA:268249
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
Monosomy 9Q22.3	Microphthalmia, Cataract, Retinopathy	ORPHA:77301
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Hypermelanotic macule, Minimal change glomerulonephritis, Multiple lentigines, P...	ORPHA:1830
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Subcortical cerebral atrophy, Conjunctivitis, Sparse hair, Agen...	ORPHA:2273
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Sparse scalp hair, Optic nerve hypoplasia	OMIM:620029
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cataract, Hypoplasia of the olfactory bulb, Microphthalmia, Iris coloboma	ORPHA:2250
Lymphedema-Distichiasis Syndrome	Yellow nails, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal u...	OMIM:153400
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, De...	ORPHA:580
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Cataract, Sparse eyelashes, Sparse scalp hair, Absent eyelashes, Sparse...	OMIM:268400
Marshall-Smith Syndrome	Brittle hair, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Cerebral atrophy, Melanoc...	OMIM:602535
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m...	ORPHA:1571
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Cor...	OMIM:148210
Cockayne Syndrome	Dry hair, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Ab...	ORPHA:191
Baller-Gerold Syndrome	Agenesis of corpus callosum, Astigmatism, Optic atrophy, Optic nerve hypoplasia	OMIM:218600
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Optic atrophy, Arthritis	ORPHA:324
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Oculoectodermal Syndrome	Supernumerary nipple, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea, Astigmatism, Op...	OMIM:600268
Mucopolysaccharidosis, Type Vii	Corneal opacity, Hirsutism, Coarse hair, Recurrent otitis media, Thick eyebrow	OMIM:253220
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217085
Trichinellosis	Skin rash, Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjun...	ORPHA:863
Frontofacionasal Dysplasia	Cataract, Microcornea, Absent inner eyelashes, Microphthalmia, Iris coloboma	OMIM:229400
Mosaic Trisomy 9	Corneal opacity, Microcephaly, Small nail, Microphthalmia, Dandy-Walker malformation	ORPHA:99776
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Aplasia/Hypoplasia of the corpus callosum, Pigment...	OMIM:214100
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia...	ORPHA:1052
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Optic nerve dysplasia, Anencephaly, Hypoplasia of the brainstem, C...	OMIM:615287
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Transketolase Deficiency	Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Blau Syndrome	Pericarditis, Cataract, Skin rash, Facial palsy, Keratitis, Retrobulbar optic neuritis, Erythema ...	ORPHA:90340
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217093
Adams-Oliver Syndrome 4	Hypoplastic toenails, Microphthalmia, Toenail dysplasia	OMIM:615297
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Microcephaly, Uveitis, D...	ORPHA:2108
Mucopolysaccharidosis Type 6	Chronic otitis media, Sinusitis, Opacification of the corneal stroma	ORPHA:583
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Microcephaly, Sparse eyebrow, Recurrent pneumonia, Cerebral atrophy, Developme...	ORPHA:464738
Tbck-Related Intellectual Disability Syndrome	Corneal opacity, Eczema, Microcephaly, Synophrys, Hirsutism, Hypoplasia of the corpus callosum, G...	ORPHA:488632
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Congenital Ptosis	Congenital Horner syndrome, Congenital facial diplegia, Piebaldism, Astigmatism, Long eyelashes, ...	ORPHA:91411
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Retinal hemorrhage, Uveitis, Conjunctivitis, Chronic otitis m...	OMIM:608710
1Q21.1 Microdeletion Syndrome	Cataract, Microcephaly, Microphthalmia, Agenesis of corpus callosum, Iris coloboma	ORPHA:250989
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Decreased nerve conduction velocit...	OMIM:214500
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Hirsutism	OMIM:259600
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization	OMIM:617388
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Dyggve-Melchior-Clausen Disease	Corneal opacity, Microcephaly	ORPHA:239
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly, Hypopigmentation of t...	ORPHA:98795
Carpenter Syndrome 1	Optic atrophy, Cerebral atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcornea, Opacific...	OMIM:201000
Wolf-Hirschhorn Syndrome	Aplasia/Hypoplasia of the cerebellum, Sclerocornea, Highly arched eyebrow, Microcephaly, Optic at...	ORPHA:280
Curry-Jones Syndrome	Microphthalmia, High anterior hairline, Agenesis of corpus callosum, Iris coloboma, Hirsutism	OMIM:601707
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Coloboma, Abnormal optic nerve morpho...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Supernumerary nipple, Microcephaly, Coloboma, Abnormal optic nerve morpho...	ORPHA:352665
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Chorioretinal coloboma, Hypoplasia of the corpus callosum, Microphthalmia, ...	OMIM:613884
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Hypopla...	OMIM:614866
Ablepharon Macrostomia Syndrome	Absent eyebrow, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal erosion, Fine h...	ORPHA:920
Sponastrime Dysplasia	Microcoria, Cataract, Recurrent pneumonia, Congenital aphakia	ORPHA:93357
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Microcephaly, Synophrys, Thin eyebrow, Small nail, Microphthalmia, Cafe-au-lait ...	OMIM:608670
Joubert Syndrome 14	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Highly arched eyebrow, Morning glory...	OMIM:614424
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado...	ORPHA:228360
Hydranencephaly	Cerebral cortical atrophy, Chorioretinal atrophy, Optic nerve hypoplasia, Primary microcephaly	ORPHA:2177
Vici Syndrome	Hypopigmentation of hair, Cataract, Cerebellar vermis hypoplasia, Macular atrophy, Albinism, Micr...	OMIM:242840
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma, Supernumerary nipple, Microcephaly	ORPHA:1236
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal ulceration, Recurrent skin infections, Corneal scarring	OMIM:616488
Gaucher Disease	Osteomyelitis, Corneal opacity, Osteoarthritis, Hepatitis, Abnormality of skin pigmentation, Cher...	ORPHA:355
Mmep Syndrome	Microphthalmia, Microcephaly	ORPHA:3434
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Cockayne Syndrome A	Dry hair, Cataract, Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked po...	OMIM:216400
Craniosynostosis 4	Optic nerve hypoplasia	OMIM:600775
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepa...	ORPHA:728
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Microcephaly, Phthisis...	OMIM:300166
Kindler Epidermolysis Bullosa	Corneal opacity, Recurrent skin infections, Cheilitis, Abnormality of skin pigmentation, Inflamma...	ORPHA:2908
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Hypoplastic thumbnail, Cerebellar hypoplasia, Small nail, Opacifica...	ORPHA:1692
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Abnormality of the seventh cranial nerve, Uveitis, A...	ORPHA:548
Pancreatic And Cerebellar Agenesis	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Cereb...	OMIM:609069
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly, Hypopigmentation of t...	ORPHA:411511
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm...	ORPHA:3440
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Collagenoma, Familial Cutaneous	Iris atrophy, Congenital posterior occipital alopecia	OMIM:115250
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Cyclopia, Agenesis of corpus callosum	OMIM:301043
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Abnormal hair whorl, Hypoplasia of the c...	ORPHA:457284
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity	OMIM:300143
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Generalized hyp...	OMIM:619321
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Bronchiectasis, Corneal scarring, Generalized reticulate brown pigmentation,...	OMIM:301220
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology,...	ORPHA:534
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Low anterior hairline, Frontal upsweep of hair, Horizontal eyebrow, Ocu...	ORPHA:369891
Histidinemia	Hyperactivity	ORPHA:2157
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Spotty hypopigmentation, Hypoplasia of the corpus ...	ORPHA:401973
Williams Syndrome	Flat cornea, Corneal opacity, Cataract, Abnormal fingernail morphology, Microcephaly, Retinal art...	ORPHA:904
Cousin Syndrome	Low anterior hairline, Microcornea, Facial hirsutism, Hydranencephaly, Microphthalmia	OMIM:260660
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Microphthalmia, Agenesis of corpus call...	ORPHA:306542
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Coloboma, Secondary microcephaly, Microphthalmia, Agenesis of corpus callosum	OMIM:614583
Cutis Marmorata Telangiectatica Congenita	Multiple cafe-au-lait spots, Retinal detachment, Leukocoria	ORPHA:1556
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Hepatic Lipase Deficiency	Corneal arcus	OMIM:614025
Holoprosencephaly	Anophthalmia, Highly arched eyebrow, Microcephaly, Synophrys, Optic atrophy, Aplasia/Hypoplasia o...	ORPHA:2162
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord...	OMIM:620242
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Ocular Cystinosis	Corneal crystals	ORPHA:411641
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Bilateral microphthalmos, Retinal coloboma, Long e...	ORPHA:508488
Miller Fisher Syndrome	Anisocoria, Facial palsy, Mydriasis	ORPHA:98919
Juvenile Xanthogranuloma	Uveitis, Asymmetry of iris pigmentation, Iritis, Multiple cafe-au-lait spots, Blepharitis	ORPHA:158000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Corneal opacity, Hypoplasia of the corpus callosum, Bacterial endocarditis	ORPHA:2072
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus cal...	OMIM:164180
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Micr...	OMIM:610829
Mucopolysaccharidosis, Type Vi	Corneal opacity, Pneumonia, Hirsutism	OMIM:253200
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Synophrys, Cataract, Coloboma	OMIM:603457
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Decreased nerve conduction velocity	ORPHA:90658
Fanconi Anemia, Complementation Group G	Multiple cafe-au-lait spots, Microphthalmia, Microcephaly	OMIM:614082
Schimke Immunoosseous Dysplasia	Hypermelanotic macule, Fine hair, Coarse hair, Astigmatism, Opacification of the corneal stroma	OMIM:242900
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Widow's peak, Optic atrophy, ...	OMIM:616975
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Mowat-Wilson Syndrome	Cataract, Aganglionic megacolon, Supernumerary nipple, Microcephaly, Microcornea, Ectopia pupilla...	OMIM:235730
Lathosterolosis	Microcornea, Cataract, Opacification of the corneal stroma, Microcephaly	ORPHA:46059
Alport Syndrome 1, X-Linked	Corneal erosion, Lenticonus, Developmental cataract, Anterior lenticonus, Nephritis	OMIM:301050
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepat...	OMIM:269200
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t...	ORPHA:449291
Microphthalmia, Syndromic 1	Anophthalmia, Aganglionic megacolon, Microcephaly, Optic disc coloboma, Microcornea, Ciliary body...	OMIM:309800
Peters Plus Syndrome	Cataract, Corneal opacity, Microcephaly, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum...	ORPHA:709
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Sclerocornea, Microcephaly, Aplasia/Hypoplasia of the corpus cal...	OMIM:607932
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Cataract, Aganglionic megacolon, Sclerocornea, Microcephaly, Abnormal e...	ORPHA:818
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Facial palsy, Supernumerary nipple, Agenesis of cerebellar vermis, Microc...	OMIM:113620
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chronic otitis media, Ch...	OMIM:244400
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Anterior cortical cataract, Vitreous floaters	OMIM:618458
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Corneal ulceration, Corneal opacity, Microcephaly	OMIM:615273
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Rhombencephalosynapsis	Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon	ORPHA:59315
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Microcephaly, Cerebellar hypoplasia, Chorioretinal colob...	OMIM:157170
Limb Body Wall Complex	Anencephaly, Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Mucopolysaccharidosis, Type Iva	Recurrent pneumonia, Opacification of the corneal stroma	OMIM:253000
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Popliteal pteryg...	OMIM:263650
Cinca Syndrome	Arthritis, Papilledema, Skin rash, Uveitis	OMIM:607115
Treacher-Collins Syndrome	Cataract, Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Microphthalmia, Iris...	ORPHA:861
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613266
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunc...	ORPHA:95159
Larsen Syndrome	Corneal opacity, Short nail	OMIM:150250
Oculogastrointestinal Neurodevelopmental Syndrome	Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Hirsutism	OMIM:619318
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc...	ORPHA:31204
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Corn...	ORPHA:810
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Microphthalmia, Cerebellar vermis hypoplasia, Chorioretinal coloboma	OMIM:619135
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Irregular hyperpigmentation, Inflamm...	ORPHA:36412
Xk Aprosencephaly Syndrome	Microphthalmia, Microcephaly	ORPHA:3469
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Facial palsy, Sparse eyebrow, Optic disc coloboma, Hypoplastic nipples, Small nail...	OMIM:620186
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opacification ...	ORPHA:2907
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression, Mydriasis	OMIM:619727
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Agenesis of corpus callosum, Optic nerve hypoplasia	ORPHA:226307
Skin Creases, Congenital Symmetric Circumferential, 2	Microcephaly, Synophrys, Low anterior hairline, Microcornea, Hypoplasia of the corpus callosum, M...	OMIM:616734
Facial Spasm	Anisocoria	OMIM:134300
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Global brain atrophy, Microcephaly	OMIM:308350
Fraser Syndrome 1	Absent eyebrow, Anophthalmia, Corneal opacity, Microcephaly, Absent eyelashes, Bilateral micropht...	OMIM:219000
Cogan Syndrome	Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye	ORPHA:1467
Autosomal Dominant Cutis Laxa	Corneal opacity, Microcephaly, Bronchiectasis, Pyelonephritis, Developmental cataract	ORPHA:90348
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Partial agenesis of the co...	ORPHA:50
Roberts Syndrome	Sparse hair, Microphthalmia, Cataract, Microcephaly	ORPHA:3103
Stickler Syndrome	Retinal detachment, Cataract, Ectopia lentis, Osteoarthritis, Abnormal vitreous humor morphology,...	ORPHA:828
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, High anterior hairline, Orthostatic hypotension	OMIM:615510
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair, Microphthalmia, Cataract, Microcephaly	OMIM:620005
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Joubert Syndrome 2	Agenesis of cerebellar vermis, Retinal dystrophy, Optic disc coloboma, Hypoplasia of the brainste...	OMIM:608091
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Cataract, Corneal opacity, Seborrheic dermatitis, Cerebellar hypopl...	OMIM:274000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma, Microcephaly	ORPHA:3186
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Renpenning Syndrome 1	Brittle hair, Cataract, Microcephaly, Cerebral atrophy, Coloboma, Sparse hair, Microphthalmia, Sp...	OMIM:309500
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Cataract, Recurrent skin infections, Corneal opacity, Optic disc hypoplasia, S...	ORPHA:3455
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Eczema, Microcephal...	OMIM:620330
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Optic nerve hypoplasia, Sparse eyebrow, Optic atrophy, Cerebellar hemisphere hypoplas...	ORPHA:500150
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Pneumonia, Abnormal cranial nerve morpho...	ORPHA:79138
Scalp-Ear-Nipple Syndrome	Cataract, Sparse axillary hair, Sparse pubic hair, Pyelonephritis, Anisocoria, Developmental cata...	OMIM:181270
Fryns Syndrome	Aganglionic megacolon, Hypoplasia of the optic tract, Hypoplasia of olfactory tract, Small nail, ...	OMIM:229850
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Ectopia lentis	ORPHA:284979
22Q11.2 Deletion Syndrome	Cataract, Acne, Aganglionic megacolon, Seborrheic dermatitis, Retinal arteriolar tortuosity, Micr...	ORPHA:567
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia	ORPHA:95496
Charge Syndrome	Anophthalmia, Facial palsy, Highly arched eyebrow, Microcephaly, Optic atrophy, Chorioretinal col...	ORPHA:138
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia	OMIM:620025
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Microcephaly	OMIM:613885
Myhre Syndrome	Cataract, Microcephaly, Fine hair, Sparse hair, Microphthalmia, Thick eyebrow	OMIM:139210
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Joubert Syndrome 37	Sparse hair, Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum	OMIM:619185
Holoprosencephaly 7	Microcephaly, Synophrys, Bilateral microphthalmos, Partial agenesis of the corpus callosum, Hypop...	OMIM:610828
Cinca Syndrome	Retrobulbar optic neuritis, Pseudopapilledema, Inflammatory abnormality of the eye, Uveitis	ORPHA:1451
Cerebrooculofacioskeletal Syndrome 4	Cerebellar hypoplasia, Bilateral microphthalmos, Abnormal retinal morphology, Microcephaly	OMIM:610758
Stevenson-Carey Syndrome	Cerebellar hypoplasia, Microphthalmia, Hypoplasia of the corpus callosum, Coloboma	OMIM:611961
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2117
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Wilson Disease	Decreased nerve conduction velocity, Kayser-Fleischer ring, Osteoarthritis, Atypical or prolonged...	OMIM:277900
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia	OMIM:609054
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Microphthalmia-Brain Atrophy Syndrome	Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly	ORPHA:77299
Moebius Syndrome	Microphthalmia, Hypoplasia of the brainstem, Facial diplegia, Abnormality of the nail	OMIM:157900
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking	ORPHA:100924
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Abnormality of second...	ORPHA:95494
Lathosterolosis	Cerebral atrophy, Cataract, Opacification of the corneal stroma, Microcephaly	OMIM:607330
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Monosomy 18P	Microphthalmia, Alopecia, Microcephaly, Low posterior hairline	ORPHA:1598
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Bilateral microphtha...	ORPHA:3472
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin ...	ORPHA:163746
Fanconi Anemia, Complementation Group S	Microcephaly, Low anterior hairline, Long eyelashes, Sparse hair, Microphthalmia	OMIM:617883
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the corpus callosum, Recurrent otit...	OMIM:618494
Leptospirosis	Papilledema, Pericarditis, Skin rash, Hepatitis, Uveitis, Retinal hemorrhage, Chorioretinitis, Op...	ORPHA:509
Seckel Syndrome 2	Few cafe-au-lait spots, Microphthalmia, Cerebellar hypoplasia, Microcephaly	OMIM:606744
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Agenesis of cerebellar vermis, Fine hair, Microphthalmia, Agenesis of corpus callosum	ORPHA:228390
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon	ORPHA:1438
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Recurrent pneumonia, Sparse hair, Opacification of the corneal stro...	OMIM:252500
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunc...	ORPHA:79277
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Sparse sca...	OMIM:308205
Stuve-Wiedemann Syndrome 1	Sparse hair, Blotching pigmentation of the skin, Abnormal autonomic nervous system physiology, Op...	OMIM:601559
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Cere...	OMIM:219800
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Acne	ORPHA:3191
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding, Microcephaly	ORPHA:1942
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Townes-Brocks Syndrome	Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Agenesis of corpus callosum, Ir...	ORPHA:857
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emotional labi...	OMIM:610217
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes	OMIM:613456
Superficial Siderosis	Anisocoria, Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve	ORPHA:247245
Solitary Median Maxillary Central Incisor	Anophthalmia, Microcephaly, Coloboma, Microphthalmia, Cyclopia	OMIM:147250
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Corneal opacity, Alopecia totalis, Hypermelanotic macule, Osteoarthritis, Loss of...	ORPHA:740
Neu-Laxova Syndrome 1	Cataract, Absent eyelashes, Cerebellar hypoplasia, Primary microcephaly, Hydranencephaly, Microph...	OMIM:256520
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abnormal retin...	ORPHA:727
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Microcephaly, Coloboma, Opacification of the corneal stroma, Sparse ha...	OMIM:268300
Braddock-Carey Syndrome 2	Microphthalmia, Microcephaly	OMIM:619981
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys	ORPHA:261272
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Low anterior hairline, Hashimoto thyroiditis	OMIM:618223
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum	ORPHA:264200
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Highly arched eyebrow, Mi...	OMIM:619841
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Charge Syndrome	Anophthalmia, Cataract, Facial palsy, Microcephaly, Unilateral microphthalmos, Coloboma, Retinal ...	OMIM:214800
Neurooculorenal Syndrome	Iris atrophy, Cerebellar vermis hypoplasia, Highly arched eyebrow, Hypoplasia of the pons, Partia...	OMIM:620305
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Highly arched eyebrow, Microcephaly, Anisocoria, Hypoplasia of the corpus c...	OMIM:618653
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Peritonitis, Uveit...	ORPHA:32960
Momo Syndrome	Bilateral microphthalmos, Hyperconvex nail, Chorioretinal coloboma	ORPHA:2563
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Supernumerary nipple, Microcephaly, Sparse eyebrow, Synophrys, Microphthalmia, High anterior hair...	OMIM:620098
Heart And Brain Malformation Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ...	OMIM:616920
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Low anterior hairline, Highly arched eyebrow	ORPHA:404440
Frontonasal Dysplasia 2	Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, Agenesis of cerebellar vermis, ...	OMIM:613451
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Microcephaly, Synophrys, Nucl...	OMIM:612474
Marden-Walker Syndrome	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microphthalmia, Inferior cerebe...	OMIM:248700
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Cataract, Eczema, Hyperconvex nail, Microcephaly, Fine hair, Aniso...	OMIM:613406
Deafness, X-Linked 7	Unilateral microphthalmos, Thick eyebrow	OMIM:301018
Argininemia	Irritability, Hyperactivity, Spastic gait, Anorexia	OMIM:207800
Meckel Syndrome, Type 1	Microcephaly, Anencephaly, Cerebral hypoplasia, Cerebellar hypoplasia, Microphthalmia, Agenesis o...	OMIM:249000
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Microcephaly, Sparse eyebrow, Cerebellar hypoplasia, Small nail, Microphtha...	OMIM:612530
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich...	ORPHA:95455
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Abnormal pupil morphology, Microcornea, Agenesis of corpus callosum...	ORPHA:261552
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Chorioretinitis, Panuveitis, Panniculitis, Optic neuritis	OMIM:301081
Hydrolethalus	Anencephaly, Microphthalmia, Anophthalmia, Agenesis of corpus callosum	ORPHA:2189
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Corneal crystals	ORPHA:411634
Sarcoidosis	Alopecia, Cataract, Maculopapular exanthema, Hyperpigmentation of the skin, Facial palsy, Erythem...	ORPHA:797
Osteogenesis Imperfecta	Osteoarthritis, Corneal opacity	ORPHA:666
Fetal Alcohol Syndrome	Microphthalmia, Generalized hirsutism, Microcephaly	ORPHA:1915
Microphthalmia With Limb Anomalies	Abnormal eyelash morphology, Microphthalmia, Anophthalmia	OMIM:206920
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Hyperpigmentation of the skin, Sparse axillary hair, Erythema nodosum, Epididymitis...	OMIM:256040
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation	ORPHA:99819
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Aganglionic megacolon, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ast...	ORPHA:261537
Rift Valley Fever	Skin rash, Retinitis, Hepatitis, Uveitis, Macular edema, Retinal hemorrhage, Retinal vasculitis, ...	ORPHA:319251
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Cerebellar hypoplasia	ORPHA:163966
Digeorge Syndrome	Acne, Sclerocornea, Seborrheic dermatitis, Microcephaly, Recurrent pneumonia, Recurrent sinusitis...	OMIM:188400
Bloom Syndrome	Hypopigmentation of the skin, Skin rash, Pneumonia, Sparse eyelashes, Paronychia, Cheilitis, Uvei...	ORPHA:125
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Micr...	OMIM:611134
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Facial palsy, Bronchiectasis, Uveitis	OMIM:612387
Chromosome 13Q33-Q34 Deletion Syndrome	Microcephaly, Anencephaly, Microphthalmia, Cafe-au-lait spot, Agenesis of corpus callosum, Dandy-...	OMIM:619148
Mowat-Wilson Syndrome	Cataract, Aganglionic megacolon, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Mic...	ORPHA:2152
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation	ORPHA:424
Pseudotrisomy 13 Syndrome	Microcephaly, Cerebellar hypoplasia, Microphthalmia, Cyclopia, Agenesis of corpus callosum	OMIM:264480
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Hypoplasia of the corpus callosum, Microcephaly	OMIM:241410
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microcephaly, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Aplasia/Hypoplasia of t...	OMIM:609945
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Gait disturbance, Dysp...	OMIM:234200
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Microphthalmia, Microcephaly	ORPHA:2728
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction, Abnormal hair pattern	ORPHA:2717
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Hypopigmented skin patches, Uveitis, Arthritis, Patch...	ORPHA:90289
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Dandy-Walker malformation	OMIM:603194
Lymphoproliferative Syndrome 2	Recurrent pneumonia, EBV encephalitis, Uveitis	OMIM:615122
Fanconi Anemia, Complementation Group F	Pneumonia, Microcephaly, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin	OMIM:603467
Meckel Syndrome, Type 5	Microphthalmia, Anencephaly	OMIM:611561
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Absent nipple, Sparse eyelashes, Sclerocornea, Microcephaly, Sparse ...	OMIM:216340
Teebi-Shaltout Syndrome	Slow-growing hair, Highly arched eyebrow, Microcephaly, Low anterior hairline, Sparse hair, Micro...	OMIM:272950
Microphthalmia With Limb Anomalies	Microphthalmia, Optic atrophy, True anophthalmia, Abnormal eyebrow morphology	ORPHA:1106
Whipple Disease	Myositis, Pericarditis, Generalized hyperpigmentation, Myocarditis, Uveitis, Arthritis, Infectiou...	ORPHA:3452
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Nasolacrimal duct obstruction, Abnormality of the hairline	OMIM:248450
Fanconi Anemia, Complementation Group R	Microphthalmia, Microcephaly	OMIM:617244
Ohdo Syndrome, X-Linked	Sparse eyebrow, Microphthalmia, High anterior hairline, Cafe-au-lait spot	OMIM:300895
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Arthritis, In...	OMIM:181000
Galloway-Mowat Syndrome 3	Microphthalmia, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly	OMIM:617729
Microcephaly-Micromelia Syndrome	Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum	OMIM:251230
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Fanconi Anemia, Complementation Group E	Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Microcephaly	OMIM:600901
Fanconi Anemia, Complementation Group A	Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot, Microcephaly	OMIM:227650
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnormality of the...	ORPHA:247353
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microphthalmia, C...	ORPHA:2166
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Pneumonia, Microcephaly, Abnormal eyelash ...	OMIM:619488
Fanconi Anemia, Complementation Group C	Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Microcephaly	OMIM:227645
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Microphthalmia, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:616300
Fontaine Progeroid Syndrome	Sparse scalp hair, Absent nipple, Cerebellar vermis hypoplasia, Microcephaly, Synophrys, Low ante...	OMIM:612289
Monosomy 9P	Thin nail, Highly arched eyebrow, Microcephaly, Synophrys, Low posterior hairline, Microphthalmia...	ORPHA:261112
Fanconi Anemia, Complementation Group D2	Microcephaly, Abnormality of skin pigmentation, Hypoplasia of the corpus callosum, Microphthalmia...	OMIM:227646
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Conjunctival hype...	ORPHA:99826
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Pallister-Hall Syndrome	Microphthalmia, Nail dysplasia	OMIM:146510
Fanconi Anemia, Complementation Group L	Microphthalmia, Cafe-au-lait spot, Cerebellar hypoplasia	OMIM:614083
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m...	ORPHA:286
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Esophagitis	ORPHA:2538
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, Hi...	ORPHA:85408
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Low posterior hairline	OMIM:617925
Fraser Syndrome 2	Microphthalmia, Low anterior hairline	OMIM:617666
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Microcephaly, Hypoplasia of the corpus callosum, Small nail, Micr...	OMIM:100300
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,...	ORPHA:3261
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia, Agenesis of corpus callosum	OMIM:164210
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Holoprosencephaly 1	Microcephaly, Cerebellar hypoplasia, Microphthalmia, Cyclopia, Agenesis of corpus callosum	OMIM:236100
Fraser Syndrome	Microphthalmia, Anophthalmia, Abnormal hair pattern, Microcephaly	ORPHA:2052
Primary Sclerosing Cholangitis	Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Pancreatitis	ORPHA:171
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Sparse lower eyelashes, Lacrimal duct s...	OMIM:154500
Pallister-Hall Syndrome	Microphthalmia, Cerebellar hypoplasia, Nail dysplasia	ORPHA:672
Hydrolethalus Syndrome 1	Anencephaly, Microphthalmia, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:236680
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter...	ORPHA:93126

Histopathology

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

There is no histopathology data for Pxdn

IMPC related publications

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

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

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MGI Allele	Allele Type	Produced
Pxdn^em1(IMPC)J	Exon Deletion	Mice
Pxdn^{tm45667(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pxdn MGI:1916925

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Pxdn mutations

Histopathology

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The IMPC Newsletter

Access Data Release 20.1 Data