Gene Summary

Name:
ATP/GTP binding protein-like 1
Synonyms:
Nna1-l1,  Ccp4,  EG244071

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Agbl1em1(IMPC)J HOM   Late adult 8.39×10-07
decreased lean body mass Agbl1em1(IMPC)J HOM Late adult 6.64×10-06
abnormal retina blood vessel morphology Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07
abnormal retina vasculature morphology Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07
iris synechia Agbl1em1(IMPC)J HOM   Late adult 2.58×10-07
fused cornea and lens Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07
persistence of hyaloid vascular system Agbl1em1(IMPC)J HOM   Late adult 3.13×10-06
increased total body fat amount Agbl1em1(IMPC)J HOM Late adult 1.70×10-06
abnormal vitreous body morphology Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07
abnormal lens morphology Agbl1em1(IMPC)J HOM Late adult 2.78×10-06
cataract Agbl1em1(IMPC)J HOM Late adult 4.75×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Agbl1 mutations

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

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

The table below shows human diseases associated to Agbl1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974

The table below shows human diseases predicted to be associated to Agbl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... OMIM:612943
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Optic atrophy, Developmental cataract ORPHA:2572
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy, Obesity OMIM:615995
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Aniridia 3
Cataract OMIM:617142
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Intermediate Uveitis
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... ORPHA:279914
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Idiopathic Anterior Uveitis
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... ORPHA:280914
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Optic Atrophy 5
Optic atrophy OMIM:610708
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Anterior Segment Dysgenesis 2
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... OMIM:610256
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy OMIM:617087
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Spastic Paraplegia 43, Autosomal Recessive
Knee flexion contracture, Optic atrophy, Ankle flexion contracture OMIM:615043
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... OMIM:251270
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... ORPHA:209959
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Retinitis Pigmentosa 71
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... OMIM:616394
Morm Syndrome
Retinal atrophy, Cataract, Retinal dystrophy, Truncal obesity ORPHA:75858
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:612572
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma OMIM:616428
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Trichomegaly
Cataract OMIM:190330
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... OMIM:300476
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Peripheral Cone Dystrophy
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:609021
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Microspherophakia With Hernia
Retinal detachment, Inguinal hernia, Microspherophakia, Superior lens subluxation OMIM:157150
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Optic atrophy, Posterior synechiae of the anterior chamber, Developmental ca... OMIM:613154
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... ORPHA:137902
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Eales Disease
Iris neovascularization, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, V... ORPHA:40923
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... OMIM:212550
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract OMIM:204200
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor OMIM:616171
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract, Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204000
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Autosomal Recessive Spastic Paraplegia Type 45
Knee flexion contracture, Optic atrophy, Ankle flexion contracture, Flexion contracture of toe ORPHA:320396
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... ORPHA:91495
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Obesity, Retinal coloboma OMIM:601794
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Galactosemia Iv
Cataract OMIM:618881
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Obesity, Retinal coloboma ORPHA:363741
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Sensory axonal neuropathy, Optic atrophy ORPHA:329314
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Coloboma, Small for gestational age, Failure to thrive, Cataract, Abnorm... ORPHA:1617
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... OMIM:310600
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... OMIM:600132
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... OMIM:620102
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Retinitis Pigmentosa
Optic atrophy, Obesity, Abnormality of retinal pigmentation, Cataract, Atypical scarring of skin,... ORPHA:791
Galactosemia Ii
Cataract OMIM:230200
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... ORPHA:67042
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Merrf
Multiple lipomas, Optic atrophy ORPHA:551
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor, Vaginal hernia ORPHA:3173
Kahrizi Syndrome
Knee flexion contracture, Cataract, Iris coloboma, Elbow contracture OMIM:612713
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Cofs Syndrome
Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Arthrogryp... ORPHA:1466
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ... OMIM:615233
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Cataract, Decreased nerve conduct... OMIM:612674
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Senior-Loken Syndrome
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation ORPHA:3156
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Mucolipidosis Iv
Retinal degeneration, Opacification of the corneal stroma, Corneal opacity, Optic atrophy OMIM:252650
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy OMIM:615434
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy OMIM:271930
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:606068
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... OMIM:165550
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 83
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... OMIM:618173
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinitis Pigmentosa 74
Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary retinopathy OMIM:616562
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract ORPHA:2278
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Nathalie Syndrome
Cataract OMIM:255990
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Optic atrophy OMIM:613162
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Optic disc pallor, Attenuation of retinal blood vessels OMIM:617082
Autosomal Recessive Stickler Syndrome
Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy ORPHA:250984
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture... OMIM:609260
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Coloboma, Optic atrophy OMIM:274270
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Joint contracture of the hand, Campt... OMIM:609033
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy OMIM:619389
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of peripheral nerve conduction, Optic atrophy ORPHA:431329
Pontocerebellar Hypoplasia, Type 1E
Knee flexion contracture, Elbow flexion contracture, Optic atrophy OMIM:619303
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Bardet-Biedl Syndrome 9
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Inguinal hernia, Cataract, Decreased body weight OMIM:618392
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Optic atrophy, Retinal dysplasia, Cataract ORPHA:272
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Failure to thrive, Cataract, Chorioretinal coloboma ORPHA:163937
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Cataract, Umbilical hernia ORPHA:1373
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Zika Virus Disease
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... ORPHA:448237
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d... OMIM:152950
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Enhanced S-Cone Syndrome
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy OMIM:268100
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180100
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Flexion contracture, Optic disc pallor OMIM:619328
Coats Disease
Leukocoria, Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Flexion contracture, Optic atrophy OMIM:256730
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... OMIM:311070
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... ORPHA:414
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pos... OMIM:300424
Congenital Varicella Syndrome
Atypical scarring of skin, Cataract ORPHA:291
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... OMIM:616170
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... OMIM:300578
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Cachexia, Abnormal cranial n... ORPHA:97229
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Joint contracture, Optic atrophy OMIM:617481
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Maternally-Inherited Diabetes And Deafness
Cataract, Retinopathy, Abnormal chorioretinal morphology, Macular dystrophy ORPHA:225
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Stiff Skin Syndrome
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Lipodystrophy, Cataract OMIM:184900
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Martsolf Syndrome 2
Camptodactyly of finger, Decreased body weight, Camptodactyly, Developmental cataract, Cataract OMIM:619420
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Macular edema, Weight loss, Anterior chamber flare, Posterior synechiae of t... ORPHA:91500
Infantile Refsum Disease
Rod-cone dystrophy, Optic atrophy, Failure to thrive, Cataract, Facial palsy ORPHA:772
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Neonatal Adrenoleukodystrophy
Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Retinal dystrophy, Bone spicule pigmentation of the retina, ... OMIM:617547
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:600105
Cataract 47
Cataract, Microcornea OMIM:612018
Achondrogenesis Type 2
Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract ORPHA:93296
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... OMIM:268315
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Obesity, Abnormality of retinal pigmentation, Keloids ORPHA:3085
Warburg Micro Syndrome 1
Failure to thrive, Optic atrophy, Developmental cataract, Microcornea OMIM:600118
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Linear Verrucous Nevus Syndrome
Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor OMIM:613341
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy OMIM:602271
Triple A Syndrome
Iris coloboma, Optic atrophy, Motor axonal neuropathy ORPHA:869
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... ORPHA:54
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Srd5A3-Cdg
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract ORPHA:324737
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Optic atrophy OMIM:618228
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph... ORPHA:101082
Prune1-Related Neurological Syndrome
Cataract, Retinopathy, Optic atrophy ORPHA:544469
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Failure to thrive ORPHA:67048
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy OMIM:619527
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal detachment, Abno... ORPHA:370959
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Harel-Yoon Syndrome
Optic atrophy, Peripheral axonal neuropathy, Corneal opacity, Developmental cataract OMIM:617183
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenuation of retina... OMIM:619260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Coloboma, Corneal opacity OMIM:613153
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract OMIM:610125
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Diencephalic Syndrome
Cachexia, Decreased body weight, Optic atrophy ORPHA:1672
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cataract 16, Multiple Types
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cataract, Flexion contracture, Peripheral axonal neuro... OMIM:619851
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea ORPHA:139471
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Cataract, Coloboma, Optic atrophy OMIM:612379
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Mitochondrial Complex I Deficiency, Nuclear Type 7
Failure to thrive, Optic atrophy OMIM:618229
Otodental Syndrome
Retinal coloboma, Microcornea, Lens coloboma, Iris coloboma, Cataract, Abnormal dental enamel mor... ORPHA:2791
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Joubert Syndrome 9
Retinal dystrophy, Astigmatism, Cataract OMIM:612285
Pellagra-Like Syndrome
Cataract OMIM:260650
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Retinal dystrophy, Decreased body weight, Optic atrophy OMIM:614559
Muscle-Eye-Brain Disease
Cataract, Optic atrophy ORPHA:588
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Galactose Mutarotase Deficiency
Failure to thrive, Cataract ORPHA:570422
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Cataract, Macular degeneration ORPHA:284289
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy, Failure to thrive, Cataract, Peripheral demyelination OMIM:614877
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Foot joint contracture, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, Decrea... ORPHA:457205
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal dysplasia, Cataract, Peters anomaly, Remnants of the hyaloid vasc... OMIM:614643
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:613756
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Cataract, Peripheral axonal neuropathy, Corneal opacity ORPHA:496790
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation ORPHA:290
Aniridia-Absent Patella Syndrome
Inguinal hernia, Cataract, Aniridia ORPHA:1069
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves,... ORPHA:88628
Leber Congenital Amaurosis 15
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... OMIM:613843
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spondylo-Ocular Syndrome
Retinal detachment, Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens ORPHA:85194
Cataract 48
Cataract OMIM:618415
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enam... ORPHA:1873
4H Leukodystrophy
Cataract, Optic atrophy ORPHA:289494
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Cataract ORPHA:1856
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy ORPHA:1914
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Proteus-Like Syndrome
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Retina... ORPHA:2969
Deafness, Dystonia, And Cerebral Hypomyelination
Failure to thrive, Optic atrophy OMIM:300475
Congenital Disorder Of Glycosylation, Type Id
Flexion contracture, Optic atrophy, Joint contracture of the hand, Failure to thrive, Iris colobo... OMIM:601110
Achromatopsia 2
Peripapillary atrophy, Retinal thinning, Dull foveal reflex, Hypoplasia of the fovea, Myopic asti... OMIM:216900
Cln3 Disease
Cataract, Bull's eye maculopathy, Pigmentary retinopathy, Optic atrophy ORPHA:228346
Sturge-Weber Syndrome
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr... ORPHA:3205
Refsum Disease, Classic
Retinal degeneration, Cataract, Rod-cone dystrophy OMIM:266500
Walker-Warburg Syndrome
Optic atrophy, Retinal dystrophy, Abnormal optic nerve morphology, Microcornea, Retinal dysplasia... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Cataract, Flexion contracture, Coloboma OMIM:615249
Congenital Sialidosis Type 2
Cherry red spot of the macula, Optic atrophy, Developmental cataract, Inguinal hernia, Cataract, ... ORPHA:93400
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Optic atrophy, Inguinal hernia, Cataract, Corneal opacity, Umbilic... ORPHA:93399
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... ORPHA:585
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2715
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy OMIM:616648
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Macular hypoplasia, Iris coloboma, Optic atrophy OMIM:615219
Autosomal Recessive Spastic Paraplegia Type 75
Astigmatism, Temporal optic disc pallor ORPHA:459056
Distal Monosomy 13Q
Iris coloboma, Optic atrophy ORPHA:1590
Microcephaly, Amish Type
Failure to thrive, Hypoplasia of the fovea, Flexion contracture, Optic atrophy OMIM:607196
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Pelvis-Shoulder Dysplasia
Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma OMIM:169550
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Flexion contracture, Decreased body weight, Optic atrophy, Small for gestational age, Failure to ... OMIM:618346
Alg8-Cdg
Retinopathy, Optic atrophy, Abnormality of subcutaneous fat tissue, Small for gestational age, Ca... ORPHA:79325
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Rhizomelic Chondrodysplasia Punctata, Type 2
Flexion contracture, Zonular cataract, Optic nerve hypoplasia, Inguinal hernia, Cataract, Failure... OMIM:222765
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Cataract ORPHA:1366
Vici Syndrome
Abnormal macular morphology, Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1493
Full Nf2-Related Schwannomatosis
Bilateral vestibular schwannoma, Facial palsy, Retinal hamartoma, Epiretinal membrane, Posterior ... ORPHA:637
Canavan Disease
Flexion contracture, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Optic atrophy, Scarring alopecia of scalp, Astigmatism, Cataract, Ectopia pupi... OMIM:618727
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Astigmatism, Rod-cone dystrophy, Unilateral facial palsy, Optic atrophy OMIM:618547
Congenital Tufting Enteropathy
Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive, Cataract, Optic disc coloboma ORPHA:92050
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Optic atrophy OMIM:614651
Wolfram Syndrome 1
Cataract, Pigmentary retinopathy, Optic atrophy OMIM:222300
Crouzon Syndrome
Conjunctivitis, Iris coloboma, Optic atrophy ORPHA:207
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Trisomy 13
Hernia, Optic atrophy, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Abnormal retinal ... ORPHA:3378
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Joint contracture of the hand, Camptodactyly, Failure to... OMIM:214110
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal dystrophy, Congenital diaphragmatic hernia, Iris coloboma, Catara... OMIM:222448
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir... ORPHA:3163
Warburg Micro Syndrome 3
Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber... OMIM:614222
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Opto-chiasmatic atrophy, Optic atrophy OMIM:620089
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Motor axonal neuropathy, Optic atrophy, Sensory axonal neuropathy, Optic dis... OMIM:609541
Norrie Disease
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Cac... ORPHA:649
Warburg Micro Syndrome 2
Flexion contracture, Optic atrophy, Developmental cataract, Microcornea, Cataract OMIM:614225
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a... ORPHA:1215
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy OMIM:610651
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Alpha-Mannosidosis, Adult Form
Cataract, Optic disc pallor, Corneal opacity ORPHA:309288
Autosomal Dominant Optic Atrophy, Classic Form
Cataract, Morning glory anomaly, Temporal optic disc pallor, Optic atrophy ORPHA:98673
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract ORPHA:3301
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Multiple joint contractures, Optic atroph... ORPHA:320406
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Axial Spondylometaphyseal Dysplasia
Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy, Retinal dystrophy, Cataract ORPHA:168549
Warburg Micro Syndrome 4
Flexion contracture, Optic atrophy, Decreased motor nerve conduction velocity, Developmental cata... OMIM:615663
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides... OMIM:614077
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Optic atrophy, Facial palsy OMIM:615085
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Choroideremia, Microcornea, Chorioretinal dystrophy, Failure to thrive, Abnormal o... ORPHA:2707
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy OMIM:535000
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Microcornea, Cataract, Retinal coloboma ORPHA:2510
Phace Association
Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal... OMIM:606519
Zellweger Syndrome
Brushfield spots, Posterior embryotoxon, Optic atrophy, Abnormal chorioretinal morphology, Failur... ORPHA:912
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Xfe Progeroid Syndrome
Enamel hypoplasia, Optic atrophy, Corneal scarring, Cachexia, Attenuation of retinal blood vessel... OMIM:610965
Papillorenal Syndrome
Morning glory anomaly, Lens luxation, Macular degeneration, Cataract, Chorioretinal atrophy, Macu... OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Buphthalmos, Cata... OMIM:236670
Stromme Syndrome
Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, ... OMIM:243605
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste... OMIM:231550
Halperin-Birk Syndrome
Flexion contracture, Optic atrophy, Developmental cataract, Inguinal hernia, Congenital diaphragm... OMIM:618651
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy ORPHA:79095
Stt3B-Cdg
Failure to thrive, Optic atrophy ORPHA:370924