banner
Genes Phenotypes Help, News, Blog

Gene: U2af1 MGI:98884

Log in to follow

Gene Summary

Name:
U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1
Synonyms:
2010107D16Rik,  35kDa

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal placement of pupils U2af1em1(IMPC)J HET   Early adult 3.98×10-05
abnormal coat/hair pigmentation U2af1em1(IMPC)J HET   Early adult 5.86×10-05
preweaning lethality, complete penetrance U2af1em1(IMPC)J HOM   Early adult 0.00
irregularly shaped pupil U2af1em1(IMPC)J HET   Early adult 3.49×10-07
corneal opacity U2af1em1(IMPC)J HET Early adult 5.83×10-05
abnormal retina blood vessel morphology U2af1em1(IMPC)J HET   Early adult 6.10×10-05
embryonic lethality prior to organogenesis U2af1em1(IMPC)J HOM   E9.5 0.00
abnormal auditory brainstem response U2af1em1(IMPC)J HET   Early adult 1.07×10-07
persistence of hyaloid vascular system U2af1em1(IMPC)J HET Early adult 9.43×10-05
increased grip strength U2af1em1(IMPC)J HET Early adult 2.30×10-05
abnormal lens morphology U2af1em1(IMPC)J HET   Early adult 2.06×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

11 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images
PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

View images

Human diseases caused by U2af1 mutations

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

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

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

The table below shows human diseases predicted to be associated to U2af1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormal retinal morphology,... ORPHA:170
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract, Hearing impairment OMIM:300719
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Galactosialidosis
Cherry red spot of the macula, Corneal opacity, Hearing impairment ORPHA:351
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Abnormal antihelix morphology, Cataract, Chorioretinal coloboma, Hearing impairment OMIM:274205
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou... ORPHA:90654
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, Congenital sensorineural hearing impairment,... OMIM:619947
Dermoids Of Cornea
Corneal opacity OMIM:304730
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... ORPHA:1473
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Sensorineural hearing impairment, Iris cyst, Optic atrophy OMIM:620086
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Axenfeld-Rieger Syndrome, Type 3
Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae o... OMIM:602482
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment ORPHA:101082
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes OMIM:615877
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, M... ORPHA:85167
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... OMIM:613265
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... ORPHA:54
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Optic atrophy, Ectopia pupillae, Astigmatism OMIM:618727
Loose Anagen Syndrome
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma ORPHA:168
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... OMIM:103500
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Morquio Syndrome C
Corneal opacity OMIM:252300
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... ORPHA:895
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Developmental cataract OMIM:618808
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa... OMIM:193510
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Protruding ... ORPHA:317
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sparse scalp hair, Cataract, Abnormal eyebrow morphology, Poliosis, Abnormal ... ORPHA:3437
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Rhegmatogenous retinal detachment, Cataract, Peripheral ... ORPHA:891
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Gómez-López-Hernández Syndrome
Toenail dysplasia, Alopecia of scalp, Corneal opacity, Low-set ears ORPHA:1532
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... OMIM:277580
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Hearing impairment OMIM:120433
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Short Syndrome
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Sensorineural hearin... ORPHA:3163
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... OMIM:602400
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... OMIM:270200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long... OMIM:617523
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... OMIM:619260
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... ORPHA:33445
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity, Generalize... ORPHA:93476
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A... ORPHA:1867
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Ocular anterior se... OMIM:615145
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Sensorineural hearing impairment, Microcornea, Chorior... ORPHA:139471
Griscelli Syndrome Type 1
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation ORPHA:79476
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... ORPHA:79432
Eales Disease
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Optic... ORPHA:40923
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
EEG abnormality, Corneal opacity, Developmental cataract OMIM:618815
Ermine Phenotype
Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p... ORPHA:999
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Absen... OMIM:612109
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Low anterior hairline, Coloboma OMIM:613153
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity ORPHA:2370
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... ORPHA:2884
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Fingernail dysplasia, Abnormal helix morphol... ORPHA:1259
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... ORPHA:290
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Revesz Syndrome
Leukocoria, Nail pits, Fine, reticulate skin pigmentation, Fine hair, Exudative retinopathy, Nail... OMIM:268130
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cupped ear, Low anterior hairline, Ectopia pupillae, Low-set ears, Overfolded helix OMIM:618223
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Thickened heli... ORPHA:2714
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,... ORPHA:585
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Scheie Syndrome
Corneal opacity, Retinal degeneration OMIM:607016
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Microcorn... ORPHA:3214
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat... ORPHA:2969
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity, EEG abnormality ORPHA:578
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh... OMIM:172800
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Alexander Disease
Microcoria OMIM:203450
Facial Spasm
Anisocoria OMIM:134300
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... ORPHA:894
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, External ear malfo... ORPHA:233
Rodrigues Blindness
Sclerocornea, Protruding ear, Microcornea, Fine hair, Sparse hair OMIM:268320
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Olmsted Syndrome 1
Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c... OMIM:614594
Trisomy 9P
Hypoplastic toenails, Abnormal pupil morphology, Protruding ear, Fingernail dysplasia, Macrotia, ... ORPHA:236
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Sialidosis Type 2
Corneal opacity, Abnormal macular morphology, Hearing impairment ORPHA:87876
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Harel-Yoon Syndrome
Optic atrophy, Corneal opacity, Developmental cataract OMIM:617183
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative vitreoretinopa... ORPHA:2788
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
EEG abnormality, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Alopecia, Hearing impairment, Poliosis, Vitreous float... ORPHA:79098
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Sialidosis Type 1
Cataract, Corneal opacity, Decreased nerve conduction velocity, Sensorineural hearing impairment,... ORPHA:812
Familial Dysautonomia
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... ORPHA:1764
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... OMIM:231550
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... OMIM:616468
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... OMIM:611584
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism ORPHA:2786
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow... ORPHA:93400
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Optic atrophy, Low-set ears, Generalized hypertrichosis, Cherry red sp... ORPHA:93399
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Intermediate Uveitis
Anterior uveitis, Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, V... ORPHA:279914
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Posteriorly rotated ears,... ORPHA:899
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Posteriorly rotated ears, Keratitis, Synophrys, Microtia, Conjunctivitis, Thick ... OMIM:602562
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Abnormality... ORPHA:2399
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Hea... OMIM:229200
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Supernumerary nipple, Uplifted earlobe, Cupped ear, Microcornea,... OMIM:235730
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil... OMIM:619339
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov... ORPHA:163934
Wolf-Hirschhorn Syndrome
Rieger anomaly, Abnormal pinna morphology, Highly arched eyebrow, Sensorineural hearing impairmen... OMIM:194190
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Corneal opacity, Optic nerve hypoplasia ORPHA:496790
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Alpha-Mannosidosis
Cataract, Corneal opacity, Abnormal helix morphology, Macrotia, Hearing impairment ORPHA:61
Waardenburg Syndrome, Type 3
Partial albinism, Aganglionic megacolon, Synophrys, Sensorineural hearing impairment, Blue irides... OMIM:148820
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch... OMIM:267750
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarrin... OMIM:256800
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Corneal opacity, External ear malformation, Hypopigment... ORPHA:1647
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, External ear malf... ORPHA:912
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Sparse eyelashes, Fine hair, Microcornea, Large earlobe, Low-set ears, Persistent pupil... OMIM:257850
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Sensorineural hearing impairment, Ocular alb... ORPHA:2719
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity ORPHA:309288
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Sensorineural hearing impairment, Abnorma... ORPHA:90354
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Popliteal pterygium, Sparse or absent ey... ORPHA:1234
Oculomaxillofacial Dysostosis
Abnormal eyelash morphology, Sparse or absent eyelashes, Corneal opacity, Aplasia/Hypoplasia of t... ORPHA:1794
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Incontinentia Pigmenti
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the nail, ... ORPHA:464
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,... ORPHA:90658
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Miller Fisher Syndrome
Anisocoria, EEG with generalized slow activity, Facial palsy, Mydriasis ORPHA:98919
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri... OMIM:613266
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Abnormal re... ORPHA:1215
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm... ORPHA:3440
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Galactosialidosis
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ... OMIM:256540
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, EEG with focal epileptiform discharges, EEG abnormality, Hypopigmentati... ORPHA:98795
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Scalp-Ear-Nipple Syndrome
Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sparse hair, Small earlob... OMIM:181270
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Trichinellosis
Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, A... ORPHA:863
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity ORPHA:93474
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... OMIM:614195
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy, Protruding ear ORPHA:52
Neurotrophic Keratopathy
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... ORPHA:137596
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Congenital Fibrosis Of Extraocular Muscles
Cataract, Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Anisocoria, Abnorm... ORPHA:45358
Fish-Eye Disease
Corneal opacity ORPHA:79292
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals OMIM:210370
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... OMIM:619172
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Conductive hearing impairment, Gen... ORPHA:2095
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr... OMIM:236670
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Aganglionic megacolon, Posteriorly rotated ears, Highly arched eyebrow, U... ORPHA:261552
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis ORPHA:254509
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Alopecia, Corneal opacity, Hypopigmentation of the skin OMIM:163200
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Autoimmune Polyendocrinopathy Type 1
Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... ORPHA:3453
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Low-set ears, Aniridia, Iris coloboma, Hearing impairment ORPHA:251038
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Low-set ears, Iris hypopigmentation ORPHA:284160
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ... OMIM:614077
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity, Thick hair, Hearing impairment ORPHA:357058
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Corneal opacity, Optic nerve hypoplasia, Posteriorly rotated ears, Large earlobe, Astigmatism, Sm... OMIM:301056
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin ORPHA:79254
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Wagro Syndrome
Aniridia, Cataract, Corneal opacity, Low-set ears OMIM:612469
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Low-set ears, Peters anomaly, Retina... OMIM:243605
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Intestinal Botulism
Mydriasis ORPHA:178481
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... OMIM:158310
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Sy... OMIM:193500
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... OMIM:609136
Multiple Sulfatase Deficiency
Corneal opacity, Retinal degeneration, Hearing impairment OMIM:272200
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Aniso... ORPHA:99949
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Hypermelanotic macule, Optic atrophy, Uveitis, Pig... ORPHA:90321
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, High anterior hairline, Orthostatic hypotension, Hearing impairment OMIM:615510
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Sensorineural hearing impairment, Cornea... OMIM:148210
Gm1 Gangliosidosis
Corneal opacity, Abnormal retinal vascular morphology, Optic atrophy, Retinopathy of prematurity,... ORPHA:354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Mi... OMIM:614643
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Abnormal hair morpholog... OMIM:133540
Angelman Syndrome Due To A Point Mutation
EEG abnormality, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Lowry-Maclean Syndrome
Corneal opacity, Developmental glaucoma, Low-set ears, Generalized hypertrichosis, Megalocornea ORPHA:2409
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea, Hearing impairment ORPHA:77298
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Hearing impairment, White hair, Ocular albinism, Generalized hypopigmentation, Iris hyp... ORPHA:2720
Tyrosinemia Type 2
Corneal opacity, Abnormality of the nail ORPHA:28378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Pigmentary retinopathy, Frontal upswe... OMIM:612582
Lcat Deficiency
Corneal opacity ORPHA:650
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Cutis Laxa, Autosomal Dominant 3
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract OMIM:616603
Fucosidosis
Corneal opacity, Abnormality of the nail, Hearing impairment ORPHA:349
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Opacification of the corneal stroma OMIM:601356
Wound Botulism
Mydriasis ORPHA:178475
Focal Dermal Hypoplasia
Alopecia, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Abnormality of skin pigmentati... ORPHA:2092
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Cataract, Corneal opacity, Thick hair, Thickened helices, Abnormality o... ORPHA:581
Cockayne Syndrome A
Dry hair, Cataract, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentia... OMIM:216400
Cystinosis
Retinopathy, Corneal opacity ORPHA:213
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... ORPHA:529799
Mucopolysaccharidosis Type 1
Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Low anterior hairline, Retinopa... ORPHA:579
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Aniso... ORPHA:79138
Tangier Disease
Nail dysplasia, Facial diplegia, Nail dystrophy, Opacification of the corneal stroma OMIM:205400
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Hurler-Scheie Syndrome
Corneal opacity, Hirsutism OMIM:607015
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... OMIM:214110
Inhalational Botulism
Mydriasis ORPHA:254504
Hurler Syndrome
Corneal opacity, Hirsutism, Opacification of the corneal stroma, Retinal degeneration, Hearing im... OMIM:607014
Ablepharon Macrostomia Syndrome
Absent eyebrow, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal erosion, Fine h... ORPHA:920
Cutis Marmorata Telangiectatica Congenita
Multiple cafe-au-lait spots, Retinal detachment, Leukocoria ORPHA:1556
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Retinal degeneration, Retinopathy, Hyperopic astigmatism OMIM:252600
Mosaic Trisomy 8
Corneal opacity, Abnormal pinna morphology, Hypopigmented skin patches, Protruding ear, Abnormal ... ORPHA:96061
Chediak-Higashi Syndrome
Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,... OMIM:214500
Hurler Syndrome
Corneal opacity, Abnormality of skin pigmentation, Abnormal nerve conduction velocity, Retinopath... ORPHA:93473
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Limbal dermoid OMIM:613001
3Mc Syndrome 3
Abnormal pinna morphology, Corneal opacity, Highly arched eyebrow, Auricular pit, Hearing impairment OMIM:248340
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy,... OMIM:614230
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, EEG with abnormally slow frequencies, EEG abnormality, Hypopigmentation... ORPHA:98794
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Multifocal epileptiform discharges, EEG with abnormally slow frequencies ORPHA:70472
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dy... ORPHA:534
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Sparse eyebrow, Synoph... ORPHA:495875
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Neuroocular Syndrome
Brittle hair, Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hypoplasia of the fovea, High... OMIM:619539
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... ORPHA:79430
Botulism
Mydriasis ORPHA:1267
Farber Disease
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... ORPHA:333
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... ORPHA:636
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Alopecia, Posteriorly rotated ears, Opacification of the corneal stroma OMIM:601853
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Obesity And Hypopigmentation
Red hair OMIM:620195
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Optic atrophy, L... ORPHA:79330
Foodborne Botulism
Mydriasis ORPHA:228371
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Astigmatism, Corneal opacity ORPHA:2323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Synophrys, Thin eyebrow, Small nail, Small earlobe, Cafe-au-lait spot, Hearing i... ORPHA:364577
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Reti... ORPHA:2556
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Mucopolysaccharidosis, Type Vii
Corneal opacity, Sensorineural hearing impairment, Hirsutism, Coarse hair, Thick eyebrow, Hearing... OMIM:253220
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma, Hearing impairment OMIM:309801
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearing impairment OMIM:601499
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Corneal opacity, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized ... ORPHA:79396
De Barsy Syndrome
Cataract, Corneal opacity, Large earlobe, Bilateral sensorineural hearing impairment, Low-set ear... ORPHA:2962
Squalene Synthase Deficiency
Posteriorly rotated ears, Optic nerve hypoplasia, Abnormality of hair pigmentation, Low-set ears,... OMIM:618156
Collagenoma, Familial Cutaneous
Iris atrophy, Sensorineural hearing impairment, Congenital posterior occipital alopecia OMIM:115250
Proboscis Lateralis
Abnormal eyebrow morphology, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnormal location... ORPHA:141099
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Decreased nerve conduct... ORPHA:909
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Encephalocraniocutaneous Lipomatosis
Alopecia, Corneal opacity, Abnormal eyelash morphology, Retinopathy, Iris coloboma ORPHA:2396
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma, Hearing impairment OMIM:253010
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Sensorineural hearing impairment, Hypermyelinated retinal nerve fibers, Corneal ... OMIM:601812
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Highly arched eyebrow, Anisocoria, Low-set ears, Overfolded helix OMIM:618653
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Cataract, Hypermelanotic macule, Keratitis, Sensorineural ... ORPHA:910
Ocular Cystinosis
Corneal crystals ORPHA:411641
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Sparse hair, Hearing impairment OMIM:619869
Chime Syndrome
Corneal opacity, Fine hair, Retinal coloboma, Sparse hair, Hearing impairment ORPHA:3474
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Hypermelanotic macule, Multiple lentigines ORPHA:1830
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Synophrys, Sensorineural hearing impairment, Hirsutism, EEG with generalized epi... ORPHA:488632
Superficial Siderosis
Anisocoria, Abnormality of the brachial nerve plexus, Bilateral sensorineural hearing impairment,... ORPHA:247245
Mucopolysaccharidosis Type 4
Corneal opacity, Hearing impairment ORPHA:582
Moebius Syndrome
Corneal opacity, Facial palsy, Breast aplasia, Multiple cafe-au-lait spots, Hearing impairment ORPHA:570
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Sensorineural hearing impair... OMIM:206900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Serotonin Syndrome
Abnormality of the autonomic nervous system, Mydriasis ORPHA:43116
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Protruding ear, Developmental cataract, Vitreous hemorrh... OMIM:620185
Vici Syndrome
Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Sensorineural hearing impairment, ... OMIM:242840
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Hirsutism OMIM:259600
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Highly arched eyebrow, Se... ORPHA:309282
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Corneal opacity, Optic nerve hypoplasia, Po... ORPHA:536471
Multisystemic Smooth Muscle Dysfunction Syndrome
Retinal infarction, Mydriasis OMIM:613834
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Sensorineural heari... ORPHA:163746
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Decreased nerve ... ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, EEG ab... OMIM:253280
Mend Syndrome
Abnormal auditory evoked potentials, Cataract, Spotty hypopigmentation, Low-set ears ORPHA:401973
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin... ORPHA:53271
Fryns Syndrome
Low-set, posteriorly rotated ears, Aganglionic megacolon, Corneal opacity, Hypoplastic fingernail ORPHA:2059
Tangier Disease
Facial diplegia, Corneal opacity, Nail dystrophy ORPHA:31150
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Cataract, Posteriorly rotated ears, Brushfield spots, Sensorineural hearing im... OMIM:214100
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Optic atrophy, Facial palsy, Mydriasis OMIM:259720
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism ORPHA:464311
Pseudo-Torch Syndrome 1
Low-set ears, Cataract, Opacification of the corneal stroma OMIM:251290
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Corneal opacity, Aganglionic megacolon, Keratitis, Abn... ORPHA:2273
Galloway-Mowat Syndrome 1
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Small nail,... OMIM:251300
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Sensorineural hearing ... ORPHA:324
Mosaic Trisomy 9
Low-set ears, Corneal opacity, Small nail ORPHA:99776
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal foveal ... ORPHA:217085
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... ORPHA:238468
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Abnormality of hair texture, Protruding ear, Overfolded helix ORPHA:96169
Carpenter Syndrome 1
Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Microcornea, Low-set ... OMIM:201000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Sensorineural hearing impairment, Optic nerve dysplasia, Optic atroph... OMIM:614866
Histiocytoid Cardiomyopathy
Megalocornea, Optic atrophy, Corneal opacity, Congenital aphakia ORPHA:137675
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Abnormality of skin pigmentation, M... ORPHA:1052
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Corneal opacity, Abnormal foveal ... ORPHA:217093
Oculoectodermal Syndrome
Supernumerary nipple, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea, Astigmatism, Op... OMIM:600268
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Corneal opacity, Protruding ear, Astigmatism, Macrotia, Breast hypoplasia ORPHA:464306
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Dyggve-Melchior-Clausen Disease
Corneal opacity, Hearing impairment ORPHA:239
Craniotubular Dysplasia, Ikegawa Type
Mydriasis, Optic neuropathy, Optic atrophy, Optic nerve compression, Hearing impairment OMIM:619727
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Schimke Immunoosseous Dysplasia
Hypermelanotic macule, Fine hair, Coarse hair, Astigmatism, Opacification of the corneal stroma OMIM:242900
Alternating Hemiplegia Of Childhood
EEG abnormality, Abnormal autonomic nervous system physiology, Thin eyebrow, Mydriasis ORPHA:2131
Linear Skin Defects With Multiple Congenital Anomalies 3
Hyperpigmented streaks, Sclerocornea OMIM:300952
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity, Posteriorly rotated ears, Synophrys, Sensorineural hearing impairment, Thin eyeb... OMIM:608670
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Cataract, Hyperconvex nail, Uplifted earlobe, Sensorineural hearin... OMIM:613406
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Sclerocornea, Highly arched eyebrow, Hearing impairment, Optic... ORPHA:280
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Hearing impairment ORPHA:583
Arachnoid Cyst
Cranial nerve compression, Facial palsy, Mydriasis ORPHA:2356
Meckel Syndrome
Low-set, posteriorly rotated ears, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Opt... ORPHA:564
Mucopolysaccharidosis, Type Vi
Corneal opacity, Hirsutism, Hearing impairment OMIM:253200
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Larsen Syndrome
Conductive hearing impairment, Corneal opacity, Short nail, Hearing impairment OMIM:150250
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... OMIM:300166
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit... ORPHA:167
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Sensorineural hearing impairment, Mydriasis OMIM:619351
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Corneal ulceration, Corneal opacity, Low-set ears OMIM:615273
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Pituitary Apoplexy
Mydriasis ORPHA:95613
Gaucher Disease
Corneal opacity, Abnormality of skin pigmentation, Cherry red spot of the macula, Retinopathy, Ab... ORPHA:355
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opacification of the corneal st... ORPHA:2907
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma, Hearing impairment ORPHA:46059
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Hypopigmentation of hair, Cataract, Aganglionic megacolon, Scl... ORPHA:818
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Cupped ear, Popl... OMIM:263650
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Microtia, second degree, Cataract, Corneal opacity, Optic atro... ORPHA:709
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Fraser Syndrome 1
Absent eyebrow, Corneal opacity, Abnormal pinna morphology, Absent eyelashes, Cupped ear, Extensi... OMIM:219000
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Kindler Epidermolysis Bullosa
Abnormality of skin pigmentation, Abnormal toenail morphology, Conjunctivitis, Corneal opacity ORPHA:2908
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma, Hearing impairment OMIM:253000
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Opacification of the corneal stroma, Hearing impairment ORPHA:79280
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Absent eyebrow, Corneal opacity, Alopecia totali... ORPHA:740
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Mosaic Trisomy 1
Abnormal pinna morphology, Hypoplastic thumbnail, Low-set ears, Small nail, Opacification of the ... ORPHA:1692
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Posteriorly rotated ears, Sclerocornea, Overfolded helix, Protruding... OMIM:600920
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... ORPHA:286
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Onychogryposis OMIM:603671
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Sim1-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398079
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Sensorineural hearing impairment, Corneal opacity ORPHA:2072
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Stuve-Wiedemann Syndrome 1
Blotching pigmentation of the skin, Abnormal autonomic nervous system physiology, Low-set ears, O... OMIM:601559
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Cataract, Corneal opacity, Posteriorly rotated ears, Optic disc hypoplasia, Sy... ORPHA:3455
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retinopathy, Recurrent ... OMIM:219800
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Autosomal Dominant Cutis Laxa
Protruding ear, Corneal opacity, Low-set ears, Developmental cataract ORPHA:90348
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Aganglionic megacolon, Ker... OMIM:308205
Williams Syndrome
Low-set, posteriorly rotated ears, Flat cornea, Corneal opacity, Cataract, Abnormal fingernail mo... ORPHA:904
Magel2-Related Prader-Willi-Like Syndrome
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:398069
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Posteriorly rotated ears, Abnormal pinna morphology, Coloboma, Opacifi... OMIM:268300
Wilson Disease
Decreased nerve conduction velocity, Kayser-Fleischer ring OMIM:277900
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Opacification of the corneal stroma, Sparse hair, Megalocornea, Hyp... OMIM:252500
Microphthalmia, Syndromic 6
Posteriorly rotated ears, Retinal dystrophy, Uplifted earlobe, Sclerocornea, Protruding ear, Micr... OMIM:607932
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Cocaine Intoxication
Mydriasis ORPHA:90068
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Osteogenesis Imperfecta
Mixed hearing impairment, Progressive hearing impairment, Corneal opacity, Hearing impairment ORPHA:666
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Abnormal pinna morphology, Sclerocornea, Hearing i... ORPHA:3472
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... ORPHA:1974
Lathosterolosis
Conductive hearing impairment, Cataract, Opacification of the corneal stroma OMIM:607330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma OMIM:615287
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Fryns Syndrome
Aganglionic megacolon, Low-set ears, Small nail, Opacification of the corneal stroma, Facial hirs... OMIM:229850
Scorpion Envenomation
Mydriasis ORPHA:466677
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Posteriorly rotated ears, Hearing impairme... OMIM:619488
Plague
Conjunctival hyperemia, Hearing impairment, Mydriasis ORPHA:707
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Yunis-Varon Syndrome
Sparse scalp hair, Cataract, Absent nipple, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Senso... OMIM:216340
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Digeorge Syndrome
Low-set ears, Posterior embryotoxon, Sclerocornea OMIM:188400

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 U2af1

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 U2af1.

No publications found that use IMPC mice or data for U2af1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
U2af1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
U2af1em1(IMPC)J Exon Deletion Mice
U2af1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter