Gene Summary

pleckstrin homology domain containing, family A member 5
PEPP2,  2810431N21Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 blood vessel morphology Plekha5em1(IMPC)Tcp HOM   Early adult 3.62×10-07
abnormal skin morphology Plekha5em1(IMPC)Tcp HOM Early adult 0.00
fused cornea and lens Plekha5em1(IMPC)Tcp HOM   Early adult 1.82×10-06
enlarged urinary bladder Plekha5em1(IMPC)Tcp HOM Early adult 0.00
persistence of hyaloid vascular system Plekha5em1(IMPC)Tcp HOM   Early adult 2.95×10-05
iris synechia Plekha5em1(IMPC)Tcp HOM   Early adult 2.06×10-06
increased startle reflex Plekha5em1(IMPC)Tcp HOM Early adult 1.72×10-06
abnormal lens morphology Plekha5em1(IMPC)Tcp HOM Early adult 6.48×10-05
abnormal retina vasculature morphology Plekha5em1(IMPC)Tcp HOM Early adult 2.49×10-07
abnormal optic disk morphology Plekha5em1(IMPC)Tcp HOM   Early adult 3.21×10-05
increased spleen weight Plekha5em1(IMPC)Tcp HOM Early adult 6.09×10-05
abnormal placement of pupils Plekha5em1(IMPC)Tcp HOM Early adult 1.52×10-06
impaired pupillary reflex Plekha5em1(IMPC)Tcp HOM   Early adult 1.75×10-05
abnormal iris pigmentation Plekha5em1(IMPC)Tcp HOM   Early adult 3.50×10-06
abnormal iris morphology Plekha5em1(IMPC)Tcp HOM   Early adult 2.83×10-05
abnormal cornea morphology Plekha5em1(IMPC)Tcp HOM   Early adult 4.71×10-05
mydriasis Plekha5em1(IMPC)Tcp HOM   Early adult 2.05×10-06
enlarged lymph nodes Plekha5em1(IMPC)Tcp HOM Early adult 0.00
cataract Plekha5em1(IMPC)Tcp HOM   Early adult 6.49×10-05
narrow eye opening Plekha5em1(IMPC)Tcp HOM   Early adult 8.89×10-07
corneal vascularization Plekha5em1(IMPC)Tcp HOM   Early adult 2.21×10-05
irregularly shaped pupil Plekha5em1(IMPC)Tcp HOM   Early adult 4.37×10-05

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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.


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

94 Images

Eye Morphology

Images Ophthalmoscopy

91 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Plekha5 mutations

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

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

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

The table below shows human diseases predicted to be associated to Plekha5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Tietz Albinism-Deafness Syndrome
White eyebrow, Hypopigmentation of the fundus, Blue irides, White eyelashes, Generalized hypopigm... OMIM:103500
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Sclerocornea, Microcornea, Cataract, Coloboma, Ectopia pupillae, Epicanthus, Hypo... OMIM:615877
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Iris hypo... OMIM:126070
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Abnormality of skin pigmentation OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Waardenburg Syndrome, Type 2D
Telecanthus, Heterochromia iridis OMIM:608890
Oliver-Mcfarlane Syndrome
Central heterochromia, Long eyebrows, Retinal degeneration, Long eyelashes, Hypoplasia of penis, ... OMIM:275400
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Hypertension, Ectopia lentis ORPHA:1885
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Aplas... ORPHA:1067
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Urocanase Deficiency
Fair hair, Blue irides, Urocanic aciduria, Tremor OMIM:276880
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Woolly Hair
Hypopigmentation of hair, Abnormal retinal morphology, Sparse lateral eyebrow, Cataract, Abnormal... ORPHA:170
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Unilateral narrow palpebral fissure, Cataract, Astigmatism, Ectopia pupillae, Optic atrophy OMIM:618727
Aniridia 3
Cataract OMIM:617142
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Optic nerve misrouting, Blue irides, Iris transilluminati... ORPHA:352731
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
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Cataract OMIM:610156
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ptosis, Abnormal... ORPHA:97229
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy, Optic atrophy ORPHA:2572
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis, Ptosis ORPHA:1214
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacit... ORPHA:1473
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Cataract, Per... OMIM:143200
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormality of retinal pigmentation, Ptosis, Downslanted palpebral fissures... ORPHA:1390
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Cataract, Epicanthus, Hepatomegaly OMIM:614882
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Corneal opacity, Lens subluxation, Retinal... ORPHA:85167
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Intermediate Uveitis
Macular scar, Band keratopathy, Optic neuritis, Vitreous haze, Cataract, Cystoid macular edema, T... ORPHA:279914
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Miosis, Macular atrophy, Retinal dystrophy,... OMIM:212550
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension, Ptosis, Urinary retention ORPHA:254509
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy, Renal insufficiency OMIM:615995
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Persistent pupillary membrane, Microcornea, Cataract, Corneal ... OMIM:221900
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Gia... ORPHA:54
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Wound Botulism
Mydriasis, Urinary retention, Cardiac arrest, Ptosis ORPHA:178475
Intestinal Botulism
Mydriasis, Ptosis ORPHA:178481
3-Methylglutaconic Aciduria Type 4
Cataract, 3-Methylglutaconic aciduria, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia ORPHA:67048
Toxin-Mediated Infectious Botulism
Mydriasis, Ptosis ORPHA:230800
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Miosis, Macular edema, Nuclear cataract, Increased c... ORPHA:280914
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral axonal neuropathy, Peripheral dysmyelination, Decreased ner... ORPHA:101082
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Mios... ORPHA:280921
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Nephrolithiasis, Megacystis OMIM:619365
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Fundus... ORPHA:67042
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Motor axonal neuropathy ORPHA:247815
Griscelli Syndrome Type 1
Premature graying of hair, Retinopathy, Partial albinism, White hair, Iris hypopigmentation ORPHA:79476
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, My... OMIM:259720
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus, Hypopigmentati... OMIM:203200
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract, Hepatomegaly OMIM:607906
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Uveitis, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepato... OMIM:617388
Inhalational Botulism
Mydriasis, Urinary retention, Ptosis ORPHA:254504
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Cataract, Long eyelashes OMIM:190330
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Retinal detachment, Splenomegaly, Thymus hyperplasia, Abnormal pu... ORPHA:2969
Atopic Keratoconjunctivitis
Blepharitis, Corneal opacity, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Keratitis,... ORPHA:163934
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis OMIM:156850
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Hepatosplenomegaly, Renal cortical microcysts, Cataract, Splenomegaly, Optic nerve dy... OMIM:614866
Foodborne Botulism
Arrhythmia, Mydriasis, Urinary retention, Ptosis ORPHA:228371
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia, Juvenile cataract OMIM:212500
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Oculocutaneous Albinism Type 3
White eyebrow, Optic nerve misrouting, Hypopigmentation of the skin, Blue irides, White eyelashes... ORPHA:79433
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Infant Botulism
Cardiac arrest, Hypotension, Ptosis, Keratoconjunctivitis sicca, Mydriasis, Hypertension ORPHA:178478
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Micropenis ORPHA:75858
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Hec Syndrome
Developmental cataract, Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Abnormal retinal v... ORPHA:2119
Peroxisome Biogenesis Disorder 2A (Zellweger)
Upslanted palpebral fissure, Cataract, Optic nerve dysplasia, Hepatomegaly, Epicanthus, Polycysti... OMIM:214110
Frontofacionasal Dysplasia
Absent inner eyelashes, Microcornea, Cataract, Aplasia/Hypoplasia of the eyebrow, Telecanthus, Bl... ORPHA:1791
Fair hair, Cataract, Blue irides, Increased level of hippuric acid in urine, Generalized hypopigm... OMIM:261600
Macular scar, Optic neuropathy, Submandibular lymph node enlargement, Marcus Gunn pupil, Lower ey... OMIM:118400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- an... OMIM:601706
Cherry red spot of the macula, Corneal opacity ORPHA:351
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Abnormal eye... ORPHA:85194
Olivopontocerebellar Atrophy-Deafness Syndrome
Chorioretinal coloboma, Optic atrophy ORPHA:2732
2Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Serotonin Syndrome
Abnormality of the autonomic nervous system, Acute kidney injury, Hypotension, Mydriasis, Hyperte... ORPHA:43116
Xeroderma Pigmentosum, Complementation Group D
Cataract, Telangiectasia, Keratoconjunctivitis sicca, Ectropion, Keratitis, Corneal neovasculariz... OMIM:278730
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Mydriasis, Urinary retention, Arrhythmia ORPHA:1267
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Oculocutaneous Albinism Type 2
White eyebrow, Macular hypopigmentation, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Epicanthus, Chorioretinal coloboma, Cataract ORPHA:2489
Griscelli Syndrome
Premature graying of hair, Leukopenia, Hypopigmented skin patches, Bone marrow hypocellularity, A... ORPHA:381
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Griscelli Syndrome Type 2
Premature graying of hair, Pancytopenia, Hypopigmentation of hair, Hemophagocytosis, Splenomegaly... ORPHA:79477
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Macular Dystrophy, Corneal
Macular dystrophy, Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Sensory axonal neuropathy, Cataract, Optic atrophy ORPHA:329314
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Cataract, Polycystic kidney dysplasia, Microcoria, Retinal dystrophy OMIM:263100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, C... OMIM:251270
Dysequilibrium Syndrome
Cataract ORPHA:1766
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Cataract, Rod-cone dystrophy, Macular degeneration, Concentric hypertroph... OMIM:204200
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Leber Congenital Amaurosis 4
Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Keratoconus, Attenuation of retinal ... OMIM:604393
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Waardenburg Syndrome, Type 3
Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Blepharophimosis, Wh... OMIM:148820
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, O... ORPHA:137902
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Hepatomegaly, Pigmentary retinopathy, Keratoconus, H... OMIM:204000
Methionine Malabsorption Syndrome
Aminoaciduria, White hair, Blue irides OMIM:250900
Mental Retardation, Buenos Aires Type
Fair hair, Intrahepatic biliary atresia, Long eyelashes, Blue irides, Ptosis, Curly eyelashes, Do... OMIM:249630
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Astigmatism, Ocular albinism, Iris hypopigm... ORPHA:999
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Optic Atrophy 2
Optic atrophy, Tremor OMIM:311050
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Anterior synechiae of the anterior chamber, Hypopigmentation of hair, Hypopigmented skin patches,... ORPHA:3214
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Nephrotic syndrome, Proteinuria, Splenomegaly, Athetosis, Hepat... ORPHA:834
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Epistaxis, Retinal vasculitis, Retinal ... ORPHA:40923
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cataract... OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Zellweger Syndrome
Upslanted palpebral fissure, Posterior embryotoxon, Hydronephrosis, Cataract, Corneal opacity, Hy... ORPHA:912
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of the optic nerve, Hypoplasia of the fovea, Abnormality of... ORPHA:79434
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Chediak-Higashi Syndrome
Anemia, Iris hypopigmentation, Thrombocytopenia, Abnormal dense granules, Tremor, Leukopenia, Gia... OMIM:214500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Ectopia pupillae, Pulmonic stenosis, Abnormal B cell morphology OMIM:618223
Microcornea, Abnormal pupil morphology, Blepharophimosis, Abnormal eyebrow morphology, Iris coloboma ORPHA:3374
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Hematuria, Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal str... OMIM:158310
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract, Rod-cone dystrophy OMIM:613731
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus,... ORPHA:55
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Axonal loss, Generalized aminoaciduria, Microvesicular hepatic steatosis, Action tremor, Dystonia... ORPHA:404454
Mucolipidosis Iv
Retinal degeneration, Dystonia, Corneal opacity, Abnormal abdomen morphology, Opacification of th... OMIM:252650
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spastic Ataxia 7, Autosomal Dominant
Congenital miosis, Optic atrophy OMIM:108650
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Optic... OMIM:300476
Cutis Marmorata Telangiectatica Congenita
Telangiectasia, Leukocoria, Retinal detachment, Hypertension OMIM:219250
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hermansky-Pudlak Syndrome 11
Fair hair, Hypoplasia of the fovea, Albinism, Iris transillumination defect, Ocular albinism, Mel... OMIM:619172
Senior-Loken Syndrome
Nephronophthisis, Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Congenit... ORPHA:3156
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal vein occlusion, Abnorma... ORPHA:98977
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Abnormality of retinal pigmentation, Palpebral edema, Ptosis, Iris coloboma ORPHA:1259
Congenital Hydrocephalus
Downslanted palpebral fissures, Macular hypoplasia, Iris coloboma, Optic atrophy ORPHA:2185
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic neuropathy, Mydriasis, Epicanthus, Optic atrophy OMIM:619727
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Infantile Spasms-Broad Thumbs Syndrome
Downslanted palpebral fissures, Cataract, Optic disc pallor, Hypertrophic cardiomyopathy ORPHA:3173
Nephronophthisis 11
Nephronophthisis, Retinal degeneration, Polyuria, Anemia, Renal corticomedullary cysts, Stage 5 c... OMIM:613550
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pig... OMIM:607921
Arachnoid Cyst
Urinary incontinence, Ptosis, Urinary bladder sphincter dysfunction, Mydriasis, Cranial nerve com... ORPHA:2356
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Aganglionic megacolon, Arrhythmia ORPHA:2151
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Deafness-Hypogonadism Syndrome
Epicanthus, Heterochromia iridis, Congenital stationary night blindness ORPHA:90646
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Corneal opacity, Abnormal pupil morphology, Hypert... ORPHA:1764
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Cataract ORPHA:85288
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Microcornea, Cataract, Upslanted palpebral fissure ORPHA:2528
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Sturge-Weber Syndrome
Heterochromia iridis, Corneal dystrophy, Optic atrophy, Pulmonary embolism, Retinal detachment, C... ORPHA:3205
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the fundus, Hypopigmentation of the skin, Ocular albinism, Thromb... OMIM:614171
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Abnormality of the optic nerve, Hypoplasia of the fovea, Hypopigmentati... ORPHA:79431
Knobloch Syndrome 1
Band keratopathy, Vitreoretinopathy, Developmental cataract, Bifid ureter, Persistent pupillary m... OMIM:267750
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract, Ptosis, Hematuria OMIM:120433
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ureteral stenosis, Cataract, Corneal opacity, Athetosis, Anemia, Choroi... ORPHA:2719
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Maternally-Inherited Diabetes And Deafness
Retinopathy, Arrhythmia, Proteinuria, Congestive heart failure, Cataract, Hypertrophic cardiomyop... ORPHA:225
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hematuria, Acute kidney injury, Proteinuria, Glomerulon... ORPHA:90068
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Pituitary Apoplexy
Hypotension, Ptosis, Mydriasis, Hypertension, Normochromic anemia ORPHA:95613
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Generalize... ORPHA:2720
Bickerstaff Brainstem Encephalitis
Abnormality of the autonomic nervous system, Abnormal cranial nerve morphology, Ptosis, Decreased... ORPHA:79138
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Optic disc pallor, Macular dystrophy OMIM:616170
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Cataract OMIM:608763
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Dystonia, Arrhythmia, Thin eyebrow, Abnormal autonomic nervous system physiology... ORPHA:2131
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Mydriasis, Hypertension, Retinal infarction OMIM:613834
Waardenburg Syndrome, Type 1
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmentation of the fundus, T... OMIM:193500
Acrofrontofacionasal Dysostosis
Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma, Downslant... ORPHA:1784
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Hepatomegaly, Jaundice OMIM:614876
Baraitser-Winter Cerebrofrontofacial Syndrome
Heterochromia iridis, Euryblepharon, Microcornea, Hydronephrosis, Palpebral edema, Ptosis, Highly... ORPHA:2995
Wyburn-Mason Syndrome
Retinal vascular malformation, Iris hypopigmentation, Cerebral hemorrhage, Subarachnoid hemorrhag... ORPHA:53719
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence, Cataract, Optic atrophy OMIM:270800
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigma... OMIM:152950
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy, Vacuolated lymphocytes OMIM:609055
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pyelonephritis, Anuria, Peritonitis, Bidirectional shunt, Megacystis, Elevated pulmonary artery p... OMIM:619351
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Astigmatism, Blue irides, Ocular alb... OMIM:203100
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Upslanted palpebral fissure, Hand tremor, Micropenis, Blue irides, Epicanthus, Cafe-au-lait spot ORPHA:3041
Refsum Disease, Classic
Retinal degeneration, Arrhythmia, Congestive heart failure, Cataract, Miosis, Ptosis, Rod-cone dy... OMIM:266500
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus OMIM:300500
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Duane Retraction Syndrome
Central heterochromia, Chorioretinal coloboma, Ectopic kidney, Short palpebral fissure, Hypopigme... ORPHA:233
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Premature ventricular contraction, Acute kidney injury, Arrhythmi... ORPHA:466677
Retinitis Pigmentosa 46
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Developmental And Epileptic Encephalopathy 35
Cataract, Cardiomyopathy, Limb tremor OMIM:616647
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Jaund... ORPHA:290
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Peripheral axonal neuropathy, Optic disc pallor, Optic atrophy OMIM:617087
Cataract, Hepatomegaly, Downslanted palpebral fissures, Epicanthus, Iris coloboma ORPHA:79326
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Hypoplasia of penis, Ptosis, Downslanted palpebral fissu... ORPHA:284160
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Pierson Syndrome
Diffuse mesangial sclerosis, Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage,... OMIM:609049
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Cataract, Ptosis ORPHA:1373
Dermoids Of Cornea
Corneal opacity OMIM:304730
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Gastrointestinal hemorrhage, Abnormality of the optic nerve, Long eyela... ORPHA:79430
Mevalonic Aciduria
Downslanted palpebral fissures, Cataract, Splenomegaly ORPHA:29
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Hypoplasia of penis, Keratoconus, Optic atrophy, A... ORPHA:791
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Blepharophimosis, Decreased corneal thickness, Narrow palpebral ... OMIM:618175
Ribose 5-Phosphate Isomerase Deficiency
Decreased level of erythritol in urine, Increased level of xylitol in urine, Increased level of r... OMIM:608611
Oculocutaneous Albinism Type 5
Ocular albinism, Abnormal fundus morphology, Hypoplasia of the fovea ORPHA:370091
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Hyperpigmentation of the s... OMIM:231550
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Aganglionic megac... OMIM:172800
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Red hair, Hypospadias OMIM:614613
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Cataract, Retinal detachment, Ab... ORPHA:3437
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Optic Atrophy 5
Optic atrophy OMIM:610708
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Long eyelashes, Astigmatism, Ptosis, Downslanted palpebral fissures, Optic disc pallor OMIM:617523
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Optic atrophy OMIM:614877
Alagille Syndrome
Abnormality of the ureter, Nephrotic syndrome, Corneal dystrophy, Cholestasis, Hepatomegaly, Down... ORPHA:52
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
22Q11.2 Deletion Syndrome
Upslanted palpebral fissure, Gastrointestinal hemorrhage, Ptosis, Polycystic kidney dysplasia, Ep... ORPHA:567
Mowat-Wilson Syndrome
Chorioretinal coloboma, Abnormality of enteric ganglion morphology, Microcornea, Cataract, Agangl... OMIM:235730
Revesz Syndrome
Fine, reticulate skin pigmentation, Bone marrow hypocellularity, Leukocoria, Aplastic anemia, Exu... OMIM:268130
Kid Syndrome
Punctate keratitis, Posterior blepharitis, Sparse eyebrow, Keratoconjunctivitis sicca, Sparse eye... ORPHA:477
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract, Ptosis, Highly arched eyebrow OMIM:616154
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Ptosis ORPHA:1875
Trisomy 9P
Downslanted palpebral fissures, Abnormal pupil morphology ORPHA:236
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Sparse eyebrow, Blue irides, Hypertrophic cardiomyopathy, P... OMIM:610733
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Thick... ORPHA:585
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Intention tremor, Decreased nerve conduction velocity, Rod-cone dystrophy, ... OMIM:612674
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Abnormality of retinal pigmentation, Cataract, Ptosis, Optic atrophy ORPHA:44
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Laurence-Moon Syndrome
Cataract, Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, ... ORPHA:2377
Papillorenal Syndrome
Orbital cyst, Renal cyst, Stage 5 chronic kidney disease, Horseshoe kidney, Nephrolithiasis, Morn... OMIM:120330
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Chorioretinal degeneration, Telecanthus, Posterior subcapsular cataract OMIM:615458
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Iris coloboma OMIM:613702
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Optic atrophy, Macular atrophy OMIM:250450
Cataract 11, Multiple Types
Cataract OMIM:610623
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Tubulointerstitial Nephritis And Uveitis Syndrome
Beta 2-microglobulinuria, Chorioretinal scar, Papilledema, Microscopic hematuria, Mild proteinuri... ORPHA:91500
Sialidosis Type 2
Abnormal macular morphology, Corneal opacity, Splenomegaly, Hepatomegaly, Nephropathy, Ascites, T... ORPHA:87876
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
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, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Pigmentary retinopa... OMIM:312600
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Microcornea, Hypospadias, Coloboma, Epicanthus, Coronal hypospadias, Iris... ORPHA:921
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Retinal detachment, Vitreoretinopathy ORPHA:250984
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy OMIM:165510
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Cardiomyopathy OMIM:614879
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Ptosis, Narrow... OMIM:615145
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Iris coloboma OMIM:611638
3-Methylglutaconic Aciduria, Type Viib
Neutropenia, Cataract OMIM:616271
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Coloboma, Left ventricular hypertrophy OMIM:613153
Infantile Refsum Disease
Arrhythmia, Cataract, Hepatomegaly, Rod-cone dystrophy, Cardiomyopathy, Facial palsy, Optic atrophy ORPHA:772
Triple A Syndrome
Motor axonal neuropathy, Generalized hyperpigmentation, Iris coloboma, Optic atrophy ORPHA:869
Noonan Syndrome 13
Mitral regurgitation, Blue irides, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures,... OMIM:619087
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Oculodentodigital Dysplasia, Autosomal Recessive
Short palpebral fissure, Persistent pupillary membrane, Microcornea, Cataract, Downslanted palpeb... OMIM:257850
Wildervanck Syndrome
Pseudopapilledema, Facial palsy, Lens subluxation ORPHA:3456
Peroxisome Biogenesis Disorder 1A (Zellweger)
Upslanted palpebral fissure, Renal cortical microcysts, Hydronephrosis, Cataract, Hepatomegaly, E... OMIM:214100
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Hypertrophic cardiomyopathy, Corneal dystrophy ORPHA:1369
Hypomelanosis Of Ito
Epicanthus, Cataract, Macular hypopigmented whorls, streaks, and patches, Iris coloboma OMIM:300337
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Jaberi-Elahi Syndrome
Dystonia, Cataract, Sparse eyebrow, Sparse eyelashes, Optic atrophy, Tremor OMIM:617988
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Ptosis ORPHA:893
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Intention tremor, Cataract, Ptosis, Tortuosity of conjunctival vessels, Macular degeneration ORPHA:284289
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Retinal detachment, Optic nerve hypoplasia, Coloboma, Cardiomyopathy, Megalocornea, Opt... ORPHA:370959
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation, Aortic regurgitation, Abnormal left ventricular function OMIM:132900
Flynn-Aird Syndrome
Rod-cone dystrophy, Cataract OMIM:136300
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Albinism, Astigmatism, Optic disc pallor, Ocular albinism, Epistaxis OMIM:614077
Juvenile Xanthogranuloma
Blepharitis, Uveitis, Asymmetry of iris pigmentation, Iritis, Multiple cafe-au-lait spots, Myelop... ORPHA:158000
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Cataract, Cho... ORPHA:414
Lymphadenitis, Arrhythmia, Splenomegaly, Hepatomegaly, Hypotension, Enlarged mesenteric lymph nod... ORPHA:707
Microcytic anemia, Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy, Spotty hyperpig... ORPHA:324737
Baralle-Macken Syndrome
Upslanted palpebral fissure, Dystonia, Cataract, Urinary incontinence, Cafe-au-lait spot OMIM:619255
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Upslanted palpebral fissure, Cholestasis, Cataract, Cirrhosis, Hepatic fibrosis OMIM:609313
Phace Syndrome
Heterochromia iridis, Sclerocornea, Cataract, Optic nerve hypoplasia, Retinal vascular malformati... ORPHA:42775
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Arrhythmia, Optic atrophy, Retinal vascular tortuosity, Postural tremo... ORPHA:104
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Astigmatism, Ptosis, Optic disc pallor, Iris hypopigment... ORPHA:72
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy OMIM:614296
Retinitis Pigmentosa 43
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Down Syndrome
Upslanted palpebral fissure, Myeloproliferative disorder, Aganglionic megacolon, Epicanthus, Brus... OMIM:190685
Warburg Micro Syndrome 1
Microcornea, Developmental cataract, Optic atrophy, Ptosis OMIM:600118
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Downslanted palpebral fissures, Cataract ORPHA:3433
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Dystonia, Decreased nerve conduction velocity OMIM:614932
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract OMIM:616469
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Hypoplasia of the lacrimal punctum, Abnormal lacrimal duct morphology, Increa... ORPHA:2363
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Ptosis, Highly arched eyebrow, Ectopia pupillae, Rieger anomaly, B... OMIM:194190
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Cataract, 3-Methylglutaconic aciduria, Neutropenia, Bradycardia, Tremor OMIM:617248
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Ptosis OMIM:619527
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intention tremor, Long eyelashes, Microcornea, Cataract, Abnormality of peripheral nerve conducti... ORPHA:48431
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Adams-Oliver Syndrome 2
Narrow palpebral fissure, Developmental cataract, Optic atrophy OMIM:614219
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Albinism, Abnormal platelet granules, Ocular albinism, Epistaxis OMIM:614073
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Anisocoria OMIM:106240
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Splenomegaly, Hepatomegaly, Cardiomyopathy, ... ORPHA:93476
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy, Stage 5 chronic kidney disease, Hepatic fibrosis OMIM:612285
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Cataract, Splenomegaly, Miosis, Ptosis, Cardiom... ORPHA:773
Ch├ędiak-Higashi Syndrome
Pancytopenia, Abnormal leukocyte morphology, Anemia, Abnormality of neutrophil physiology, Iris h... ORPHA:167
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233