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 retina vasculature morphology Agbl1em1(IMPC)J HOM Late adult 9.63×10-05
abnormal optic disk morphology Agbl1em1(IMPC)J HOM   Late adult 8.93×10-07
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 9.63×10-05
fused cornea and lens Agbl1em1(IMPC)J HOM Late adult 9.63×10-05
abnormal lens morphology Agbl1em1(IMPC)J HOM Late adult 2.45×10-06
abnormal retina blood vessel morphology Agbl1em1(IMPC)J HOM   Late adult 8.93×10-07
iris synechia Agbl1em1(IMPC)J HOM   Late adult 2.89×10-07
persistence of hyaloid vascular system Agbl1em1(IMPC)J HOM   Late adult 3.81×10-06
decreased lean body mass Agbl1em1(IMPC)J HOM Late adult 1.32×10-05
cataract Agbl1em1(IMPC)J HOM Late adult 4.54×10-05

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 Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 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 OMIM:615523
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... 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
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy, Obesity OMIM:615995
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Aniridia 3
Cataract OMIM:617142
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Intermediate Uveitis
Macular scar, Optic neuritis, Band keratopathy, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Truncal obesity ORPHA:75858
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Optic Atrophy 2
Optic atrophy OMIM:311050
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Macular edema, Nuclear cataract, Increased cup-to-di... ORPHA:280914
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Flexion contracture, Optic atrophy OMIM:613154
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Optic Atrophy 5
Optic atrophy OMIM:610708
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Macular atrophy, Optic atrophy OMIM:250450
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Obesi... OMIM:616188
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Cataract, Flexion contracture OMIM:617393
Nathalie Syndrome
Cataract ORPHA:2663
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor, Optic atrophy OMIM:609021
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Trichomegaly
Cataract OMIM:190330
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Microspherophakia With Hernia
Inguinal hernia, Superior lens subluxation, Retinal detachment, Microspherophakia OMIM:157150
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Flexion contracture, Optic atrophy OMIM:616881
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Cataract, Macular degeneration, Optic atrophy OMIM:204200
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Knee flexion contracture, Failure to thrive, Elbow flexion contracture, Iris coloboma ORPHA:171860
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, O... ORPHA:137902
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Failure to thrive, Cataract, Arthrogryposis multiplex congenita OMIM:212540
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy OMIM:613862
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy, Flexion contracture of toe, Ankle flexion contracture, Knee flexion contracture ORPHA:320396
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Obesity, Retinal coloboma OMIM:601794
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Sensory axonal neuropathy, Cataract, Optic atrophy ORPHA:329314
Galactosemia Iv
Cataract OMIM:618881
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Ceroid Lipofuscinosis, Neuronal, 11
Retinal dystrophy, Optic atrophy OMIM:614706
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Uveitis, Retinal detachment, Posterior ret... OMIM:193235
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Obesity, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Kahrizi Syndrome
Cataract, Elbow flexion contracture, Iris coloboma, Knee flexion contracture OMIM:612713
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
2Q24 Microdeletion Syndrome
Small for gestational age, Cataract, Coloboma, Failure to thrive, Camptodactyly of finger, Abnorm... ORPHA:1617
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract, Truncal obesity OMIM:268050
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Retinitis Pigmentosa
Atypical scarring of skin, Abnormality of retinal pigmentation, Cataract, Obesity, Keratoconus, O... ORPHA:791
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Galactosemia Ii
Cataract OMIM:230200
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Fundus atrophy, Abnormal suspensory ligament of lens mo... ORPHA:67042
Merrf
Multiple lipomas, Optic atrophy ORPHA:551
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Optic atrophy OMIM:615722
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract OMIM:616469
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract, Optic disc pallor ORPHA:3173
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy OMIM:608611
Periventricular Nodular Heterotopia 7
Flexion contracture, Optic atrophy OMIM:617201
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy OMIM:271930
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy, Failure to thrive OMIM:614877
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Irvan Syndrome
Retinal exudate, Retinal detachment, Macular edema, Tractional retinal detachment, Vitreous float... ORPHA:209943
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Arthrogryposis multiplex congenita, Camptodactyly ... ORPHA:1466
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... OMIM:312600
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Spinocerebellar Ataxia, Autosomal Recessive 12
Retinal degeneration, Optic atrophy OMIM:614322
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:608380
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Optic atrophy OMIM:613162
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Leber Congenital Amaurosis 9
Optic disc pallor, Attenuation of retinal blood vessels, Macular coloboma, Optic atrophy OMIM:608553
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Lens subluxation ORPHA:3456
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Night Blindness, Congenital Stationary, Type 1G
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Nescav Syndrome
Peripheral axonal neuropathy, Flexion contracture, Optic atrophy OMIM:614255
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Flexion contracture of toe, Optic atrophy OMIM:619323
Retinitis Pigmentosa 62
Rod-cone dystrophy, Optic disc pallor OMIM:614181
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Subcapsular cataract, Decreased nerve conduction velocity, Rod-cone ... OMIM:612674
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Optic Atrophy 6
Optic atrophy OMIM:258500
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy OMIM:616859
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Inguinal hernia, Cataract, Cigarette-paper scars OMIM:608763
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema OMIM:124950
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Retinal detachment, Vitreoretinopathy ORPHA:250984
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Retinal vascular tortuosity, Optic atrophy ORPHA:104
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Camos Syndrome
Optic atrophy ORPHA:83472
Bardet-Biedl Syndrome 9
Retinal degeneration, Cataract, Astigmatism, Obesity, Truncal obesity, Rod-cone dystrophy, Bone s... OMIM:615986
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract ORPHA:2278
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Optic atrophy, Cataract, Decreased sensory nerve conduction velocity, P... OMIM:609033
Optic Atrophy With Demyelinating Disease Of Cns
Optic neuritis, Peripheral demyelination, Optic atrophy OMIM:165200
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Optic atrophy OMIM:616211
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Congenital Hydrocephalus
Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Leukodystrophy, Hypomyelinating, 22
Astigmatism, Optic disc pallor, Flexion contracture OMIM:619328
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Failure to thrive, Optic atrophy OMIM:274270
Nathalie Syndrome
Cataract OMIM:255990
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Jalili Syndrome
Amelogenesis imperfecta, Optic disc pallor, Cone/cone-rod dystrophy OMIM:217080
Developmental And Epileptic Encephalopathy 58
Optic atrophy OMIM:617830
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Optic disc pallor OMIM:616079
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Optic atrophy OMIM:300884
Autosomal Recessive Spastic Paraplegia Type 74
Peripheral axonal neuropathy, Optic atrophy ORPHA:468661
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, Optic atrophy, Knee flexion contracture OMIM:619303
Optic Atrophy 9
Optic atrophy OMIM:616289
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy ORPHA:496756
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Retinohepatoendocrinologic Syndrome
Cone dystrophy, Optic disc pallor OMIM:268040
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Corneal opacity, Catara... OMIM:152950
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Cataract, Retinal dysplasia, Camptodactyly of finger, Optic atrophy ORPHA:272
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic nerve hypoplasia, Failure to thrive, Optic atrophy ORPHA:163937
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Flexion contracture, Macular degeneration, Optic atrophy OMIM:256730
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic... OMIM:311070
Cataract 11, Multiple Types
Cataract OMIM:610623
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Umbilical hernia, Cataract ORPHA:1373
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy OMIM:615035
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Optic disc pallo... ORPHA:97229
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Increased adipose tissue OMIM:617404
Usher Syndrome, Type Iiib
Optic disc pallor OMIM:614504
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Cataract, Cho... ORPHA:414
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Progressive flexion contractures, Optic atrophy OMIM:617481
Maternally-Inherited Diabetes And Deafness
Retinopathy, Cataract, Macular dystrophy, Abnormal chorioretinal morphology ORPHA:225
Tubulointerstitial Nephritis And Uveitis Syndrome
Retinal vasculitis, Anterior chamber flare, Chorioretinal scar, Cataract, Cystoid macular edema, ... ORPHA:91500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Cataract, Corneal opacity, Retinal detachment OMIM:613153
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment ORPHA:90653
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Cataract, Knee flexion contracture, Camptodactyly OMIM:184900
Behr Syndrome
Achilles tendon contracture, Hamstring contractures, Adductor longus contractures, Optic atrophy OMIM:210000
Developmental And Epileptic Encephalopathy 61
Optic atrophy OMIM:617933
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract OMIM:614879
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Retinal degeneration, Optic atrophy OMIM:602271
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy, Optic atrophy ORPHA:324737
Chromosome Xp11.3 Deletion Syndrome
Attenuation of retinal blood vessels, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic... OMIM:300578
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Nance-Horan Syndrome
Microcornea, Cataract, Retinal detachment ORPHA:627
Infantile Refsum Disease
Cataract, Rod-cone dystrophy, Failure to thrive, Facial palsy, Optic atrophy ORPHA:772
Xeroderma Pigmentosum, Complementation Group G
Cataract, Small for gestational age OMIM:278780
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Iris coloboma, Retinal coloboma ORPHA:2921
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation ORPHA:93296
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Flexion contracture, Optic atrophy OMIM:618324
Cataract 47
Microcornea, Cataract OMIM:612018
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Flynn-Aird Syndrome
Rod-cone dystrophy, Cataract OMIM:136300
Cherubism
Optic atrophy ORPHA:184
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Optic atrophy OMIM:614947
Warburg Micro Syndrome 1
Microcornea, Failure to thrive, Developmental cataract, Optic atrophy OMIM:600118
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Aniridia 2
Cataract, Aniridia OMIM:617141
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Keloids, Cataract, Obesity ORPHA:3085
Cataract 16, Multiple Types
Retinal dystrophy, Developmental cataract, Posterior polar cataract OMIM:613763
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Neuroectodermal Melanolysosomal Disease
Macular dystrophy, Aplasia/Hypoplasia of the macula, Optic atrophy, Abnormality of the optic nerve ORPHA:33445
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Optic atrophy OMIM:618228
Mitochondrial Complex I Deficiency, Nuclear Type 7
Failure to thrive, Optic atrophy OMIM:618229
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy ORPHA:178377
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Martsolf Syndrome 2
Developmental cataract, Decreased body weight, Cataract, Camptodactyly of finger, Camptodactyly OMIM:619420
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Triple A Syndrome
Motor axonal neuropathy, Iris coloboma, Optic atrophy ORPHA:869
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Optic disc pallor, Retinal dystrophy OMIM:613341
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Galactose Epimerase Deficiency
Cataract, Weight loss ORPHA:79238
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased ner... ORPHA:101082
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Papillorenal Syndrome
Morning glory anomaly, Cataract, Retinal detachment, Chorioretinal atrophy, Macular degeneration,... OMIM:120330
Developmental And Epileptic Encephalopathy 16
Optic atrophy OMIM:615338
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Cataract OMIM:617228
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Cataract, Iris hypopigmentation ORPHA:67048
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Optic atrophy OMIM:609056
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Microphthalmia, Syndromic 5
Microcornea, Cataract, Optic nerve hypoplasia, Coloboma, Retinal dystrophy OMIM:610125
Diencephalic Syndrome
Decreased body weight, Optic atrophy, Cachexia ORPHA:1672
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy OMIM:619527
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Adams-Oliver Syndrome 2
Developmental cataract, Optic atrophy OMIM:614219
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Optic atrophy OMIM:619470
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Coloboma, Megalocornea, Optic atrophy, Abno... ORPHA:370959
Craniodiaphyseal Dysplasia, Autosomal Dominant
Facial diplegia, Optic atrophy, Papilledema OMIM:122860
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy OMIM:264470
Combined Saposin Deficiency
Optic atrophy OMIM:611721
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Microcornea, Cataract, Retinal dystrophy, Iris coloboma ORPHA:139471
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Optic disc pallor OMIM:617523
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic atrophy OMIM:617086
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Zika Virus Disease
Absent foveal reflex, Lens subluxation, Conjunctivitis, Optic disc hypoplasia, Retinal pigment ep... ORPHA:448237
Jaberi-Elahi Syndrome
Failure to thrive, Cataract, Optic atrophy OMIM:617988
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Sensory axonal neuropathy, Joint contractures involving the joints of the feet, Abnormal peripher... ORPHA:457205
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Exudative vitreoretinopathy, Optic atrophy OMIM:615075
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Otodental Syndrome
Retinal coloboma, Microcornea, Cataract, Abnormal dental enamel morphology, Lens coloboma, Iris c... ORPHA:2791
Joubert Syndrome 9
Retinal dystrophy, Cataract, Astigmatism OMIM:612285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Galactose Mutarotase Deficiency
Failure to thrive, Cataract ORPHA:570422
Pellagra-Like Syndrome
Cataract OMIM:260650
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Retinal degeneration, Optic atrophy OMIM:214980
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Cataract, Geographic atrophy, Abnormal auditory evoked potentials, Optic di... OMIM:619260
Muscle-Eye-Brain Disease
Cataract, Optic atrophy ORPHA:588
Congenital Disorder Of Glycosylation, Type Id
Flexion contracture, Iris coloboma, Failure to thrive, Arthrogryposis multiplex congenita, Optic ... OMIM:601110
Gm1-Gangliosidosis, Type Ii
Optic atrophy OMIM:230600
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy OMIM:617282
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:290
Spastic Paraplegia 2, X-Linked
Flexion contracture, Optic atrophy OMIM:312920
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Tortuosity of conjunctival vessels, Macular degeneration ORPHA:284289
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Aniridia-Absent Patella Syndrome
Inguinal hernia, Cataract, Aniridia ORPHA:1069
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy OMIM:300983
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Optic Atrophy 1
Optic atrophy OMIM:165500
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Retinal detachment ORPHA:1856
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Cataract, Axonal degeneration, Abnormality of periphe... ORPHA:88628
Proximal Myotonic Myopathy
Cataract ORPHA:606
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Refsum Disease, Classic
Rod-cone dystrophy, Cataract, Retinal degeneration OMIM:266500
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy OMIM:619690
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Arthrogryposis multiplex congenita OMIM:618766
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Optic atrophy, Small for gestational age OMIM:614702
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy OMIM:617669
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy ORPHA:496790
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Sclerosteosis
Facial palsy, Optic atrophy ORPHA:3152
Warburg Micro Syndrome 2
Developmental cataract, Flexion contracture, Microcornea, Cataract, Optic atrophy OMIM:614225
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Aplasia of the left hemidiaphragm, Optic atrophy OMIM:618238
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormality of the optic disc ORPHA:440727
Jalili Syndrome
Abnormality of retinal pigmentation, Amelogenesis imperfecta, Abnormal dental enamel morphology, ... ORPHA:1873
4H Leukodystrophy
Cataract, Optic atrophy ORPHA:289494
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Peripheral demyelination, Flexion contracture, Optic atrophy OMIM:618237
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Small for gestational age OMIM:619057
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Flexion contracture, Microcornea, Cataract, Opt... OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Cataract, Retinal degeneration, Flexion contracture OMIM:615249
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Proteus-Like Syndrome
Subcutaneous lipoma, Shagreen patch, Heterochromia iridis, Cataract, Retinal detachment, Abnormal... ORPHA:2969
Null Syndrome
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... ORPHA:280234
Wagr Syndrome
Obesity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Optic atrophy ORPHA:26792
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Peripheral demyelination, Optic atrophy, Joint contracture of the hand OMIM:258650
Retinitis Pigmentosa 58
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613617
Multiple Mitochondrial Dysfunctions Syndrome 6
Failure to thrive, Optic disc pallor OMIM:617954
Walker-Warburg Syndrome
Chorioretinal dysplasia, Optic atrophy, Abnormality of the optic nerve, Microcornea, Cataract, Co... ORPHA:899
Sturge-Weber Syndrome
Heterochromia iridis, Corneal dystrophy, Optic atrophy, Retinal detachment, Conjunctival telangie... ORPHA:3205
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy ORPHA:1914
Developmental And Epileptic Encephalopathy 49
Optic atrophy OMIM:617281
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per... ORPHA:585
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Congenital Sialidosis Type 2
Cherry red spot of the macula, Developmental cataract, Hypoplasia of the fovea, Cataract, Corneal... ORPHA:93400
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Cataract, Corneal opacity, Inguinal hernia, Umbilical hernia, Opti... ORPHA:93399
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Distal Monosomy 13Q
Iris coloboma, Optic atrophy ORPHA:1590
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Optic atrophy ORPHA:216873
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
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
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma OMIM:169550
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Autosomal Recessive Spastic Paraplegia Type 75
Astigmatism, Temporal optic disc pallor ORPHA:459056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Optic atrophy ORPHA:1021
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy OMIM:618236
3-Methylglutaconic Aciduria Type 9
Failure to thrive, Optic atrophy, Slender build