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
increased startle reflex Plekha5em1(IMPC)Tcp HOM Early adult 1.89×10-05
abnormal skin morphology Plekha5em1(IMPC)Tcp HOM Early adult 0.00
fused cornea and lens Plekha5em1(IMPC)Tcp HOM   Early adult 1.78×10-06
abnormal optic disk morphology Plekha5em1(IMPC)Tcp HOM   Early adult 3.14×10-05
abnormal lens morphology Plekha5em1(IMPC)Tcp HOM Early adult 6.13×10-05
abnormal retina vasculature morphology Plekha5em1(IMPC)Tcp HOM Early adult 3.08×10-07
abnormal retina blood vessel morphology Plekha5em1(IMPC)Tcp HOM   Early adult 4.31×10-07
iris synechia Plekha5em1(IMPC)Tcp HOM   Early adult 2.02×10-06
mydriasis Plekha5em1(IMPC)Tcp HOM   Early adult 2.00×10-06
corneal vascularization Plekha5em1(IMPC)Tcp HOM   Early adult 2.17×10-05
cataract Plekha5em1(IMPC)Tcp HOM   Early adult 6.82×10-05
persistence of hyaloid vascular system Plekha5em1(IMPC)Tcp HOM   Early adult 2.77×10-05
irregularly shaped pupil Plekha5em1(IMPC)Tcp HOM   Early adult 4.28×10-05
narrow eye opening Plekha5em1(IMPC)Tcp HOM   Early adult 8.69×10-07
enlarged lymph nodes Plekha5em1(IMPC)Tcp HOM Early adult 0.00
abnormal cornea morphology Plekha5em1(IMPC)Tcp HOM   Early adult 4.62×10-05
increased spleen weight Plekha5em1(IMPC)Tcp HOM Early adult 9.16×10-06
abnormal placement of pupils Plekha5em1(IMPC)Tcp HOM Early adult 1.49×10-06
abnormal iris pigmentation Plekha5em1(IMPC)Tcp HOM   Early adult 3.42×10-06
abnormal iris morphology Plekha5em1(IMPC)Tcp HOM   Early adult 2.76×10-05
impaired pupillary reflex Plekha5em1(IMPC)Tcp HOM   Early adult 1.71×10-05
enlarged urinary bladder Plekha5em1(IMPC)Tcp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Plekha5em1(IMPC)Tcp HOM Early adult 2.47×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

91 Images

Eye Morphology

Images Slit Lamp

94 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Gross Pathology and Tissue Collection


10 Images


XRay Images Whole Body Lateral Orientation

10 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
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the fovea, Upslanted palpebral fissure OMIM:620086
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Het... OMIM:103500
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Aniridia 1
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal n... OMIM:106210
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia ORPHA:99000
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides OMIM:606574
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation o... OMIM:126070
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation, Abnormal foveal morphology on macul... ORPHA:370097
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract, Rod-cone dystrophy OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma OMIM:616428
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... OMIM:619165
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Long eyebrows, Hypoplasia of penis, Long eyelashes, ... OMIM:275400
Waardenburg Syndrome, Type 2D
Heterochromia iridis, Telecanthus OMIM:608890
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae ORPHA:1885
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Corneal opacity, Pers... ORPHA:1067
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Woolly Hair
Abnormal pupil morphology, Abnormal retinal morphology, Sparse lateral eyebrow, Hypopigmentation ... ORPHA:170
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Unilateral narrow palpebral fissure, Optic atrophy, Astigmatism, Cataract, Ectopia pupillae OMIM:618727
Horner Syndrome, Congenital
Heterochromia iridis, Congenital Horner syndrome OMIM:143000
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Aniridia 3
Cataract OMIM:617142
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Coloboma, Epicanthus, Long eyelashes, Microcornea, Cataract, Hypospadias, Ectopi... OMIM:615877
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly ORPHA:79281
Oculocutaneous Albinism Type 1
Iris transillumination defect, Depigmented fundus, Generalized hypopigmentation of hair, Iris hyp... ORPHA:352731
Riboflavin Transporter Deficiency
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Hypertension, Ptosis, Tremor... ORPHA:97229
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Iris hypopigmentation, Cataract, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Downslanted palpebral fissures, Epicanthus, Synophrys, Abnormality of retinal pigmentation, Ptosi... ORPHA:1390
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Optic atrophy, Developmental cataract ORPHA:2572
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Progressive Hemifacial Atrophy
Ptosis, Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Coloboma, Cone/cone-rod dystrophy, Retinal thinning, Retinal atrophy, Macular atrophy, Abnormalit... ORPHA:85167
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, Cataract, Hepatomegaly, Epicanthus OMIM:614882
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Vitritis, Marcus Gunn pup... ORPHA:284454
Waardenburg Syndrome, Type 4B
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... OMIM:613265
Intermediate Uveitis
Tubulointerstitial nephritis, Macular edema, Vitreous haze, Posterior synechiae of the anterior c... ORPHA:279914
Iatrogenic Botulism
Orthostatic hypotension, Urinary retention, Mydriasis, Ptosis ORPHA:254509
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Hematuria, Ptosis, Cataract, Iris coloboma, Corneal opacity... ORPHA:1473
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Wound Botulism
Cardiac arrest, Urinary retention, Mydriasis, Ptosis ORPHA:178475
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Cataract, Renal insufficiency OMIM:615995
Intestinal Botulism
Ptosis, Mydriasis ORPHA:178481
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Giant melanosomes in melanocytes, Abnormal macular morphology, Ocular ... ORPHA:54
Toxin-Mediated Infectious Botulism
Ptosis, Mydriasis ORPHA:230800
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph... ORPHA:101082
Idiopathic Anterior Uveitis
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... ORPHA:280914
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Griscelli Syndrome Type 1
Retinopathy, Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Osteopetrosis, Autosomal Recessive 5
Anemia, Mydriasis, Optic atrophy, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly,... OMIM:259720
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uv... OMIM:617388
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Nephrolithiasis, Mydriasis, Megacystis OMIM:619365
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu... OMIM:203200
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Distal Monosomy 6P
Downslanted palpebral fissures, Posterior embryotoxon, Epicanthus, Hypoplasia of the iris, Anteri... ORPHA:96125
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Hemolytic anemia, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage... OMIM:175780
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... ORPHA:67042
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Proteus-Like Syndrome
Abnormal pupil morphology, Downslanted palpebral fissures, Irregular hyperpigmentation, Limbal de... ORPHA:2969
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Waardenburg Syndrome, Type 4A
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... OMIM:277580
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Motor axonal neuropathy, Mydriasis ORPHA:247815
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Oculoauricular Syndrome
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... OMIM:612109
Inhalational Botulism
Urinary retention, Mydriasis, Ptosis ORPHA:254504
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... ORPHA:209959
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Telangiectasia, Entropion, Keratoconjunctivitis sicca, Choreoathetosis, Corneal n... OMIM:278730
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Foodborne Botulism
Ptosis, Urinary retention, Mydriasis, Arrhythmia ORPHA:228371
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... OMIM:310600
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract, Long eyelashes OMIM:190330
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Nephrotic syndrome, Iris hypopigmentation, Hepatomegaly, Protei... ORPHA:834
Microphthalmia, Isolated, With Cataract 1
Cataract, Miosis OMIM:156850
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... ORPHA:163934
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Optic nerve dysplasia, Aminoaciduria, Hypoplasia of the thymus, Epicanthus, Jau... OMIM:214110
Waardenburg Syndrome Type 2
Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, Ptosis, White forel... ORPHA:895
Anterior Segment Dysgenesis 2
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... OMIM:610256
Griscelli Syndrome
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Iris hypopigmentat... ORPHA:381
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Griscelli Syndrome Type 2
Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmentation of hai... ORPHA:79477
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Infant Botulism
Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension, Ptosis ORPHA:178478
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Hec Syndrome
Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm... ORPHA:2119
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Generalized hypopigmentation, Fair hair, Cataract, Increased level of hippuric acid in urine, Blu... OMIM:261600
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Hypopigmented sk... ORPHA:2885
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
2Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Cataract, Coloboma, Abnormality iris morphology ORPHA:1617
Submandibular lymph node enlargement, Marcus Gunn pupil, Lower eyelid retraction, Macular scar, O... OMIM:118400
Frontofacionasal Dysplasia
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne... ORPHA:1791
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Iris hypopigmentation, White ... ORPHA:79433
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Usher Syndrome Type 1
Iris hypopigmentation, Cataract ORPHA:231169
Cataract 42
Cataract, Developmental cataract OMIM:115900
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Iris hypopigmentation, Cataract, Retinal detachment, Aplasia/Hypopla... ORPHA:85194
Urinary retention, Mydriasis, Arrhythmia ORPHA:1267
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... OMIM:601706
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Corneal opacity, Cherry red spot of the macula ORPHA:351
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Serotonin Syndrome
Hypotension, Mydriasis, Acute kidney injury, Abnormality of the autonomic nervous system, Hyperte... ORPHA:43116
Chediak-Higashi Syndrome
Ocular albinism, Iris hypopigmentation, Spontaneous, recurrent epistaxis, Hepatomegaly, Abnormal ... OMIM:214500
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, Iris hypopigmentation, White eyelash... ORPHA:79432
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Hematuria, Chorioretinal coloboma OMIM:120433
Persistent Hyperplastic Primary Vitreous
Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Macular hypoplasi... ORPHA:91495
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Dysequilibrium Syndrome
Cataract ORPHA:1766
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma, Epicanthus ORPHA:2489
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Retinal degeneration, ... OMIM:204200
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Sensory axonal neuropathy, Bilateral ptosis, Optic atrophy ORPHA:329314
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Waardenburg Syndrome, Type 3
Premature graying of hair, Blepharophimosis, Aganglionic megacolon, Synophrys, Hypopigmented skin... OMIM:148820
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Isolated Optic Nerve Hypoplasia/Aplasia
Vesicoureteral reflux, Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, ... ORPHA:137902
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Leber Congenital Amaurosis 1
Optic disc drusen, Hyperthreoninuria, Attenuation of retinal blood vessels, Cataract, Hepatomegal... OMIM:204000
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Methionine Malabsorption Syndrome
White hair, Aminoaciduria, Blue irides OMIM:250900
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Optic Atrophy 2
Tremor, Optic atrophy OMIM:311050
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Zellweger Syndrome
Brushfield spots, Multicystic kidney dysplasia, Posterior embryotoxon, Optic atrophy, Epicanthus,... ORPHA:912
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmented ski... ORPHA:3214
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Pigmentary retinopathy, Nodular regenerative hyperplasia of liver, Lagophthalmos, Microvesicular ... ORPHA:404454
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Eales Disease
Ischemic stroke, Iris neovascularization, Vitreous hemorrhage, Macular edema, Vitreous haze, Vitr... ORPHA:40923
Abnormal pupil morphology, Abnormal eyebrow morphology, Blepharophimosis, Microcornea, Iris coloboma ORPHA:3374
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... OMIM:133780
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Morm Syndrome
Retinal dystrophy, Micropenis, Cataract, Retinal atrophy ORPHA:75858
Nephronophthisis 11
Hepatic fibrosis, Anemia, Stage 5 chronic kidney disease, Retinal degeneration, Renal corticomedu... OMIM:613550
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor OMIM:616171
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Epistaxis... OMIM:619172
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis OMIM:613834
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Woolly Hair Nevus
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane ORPHA:79414
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Epicanthus, Aplasia of the thymus, Ectopia pupilla... OMIM:618223
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl... OMIM:613154
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Microphthalmia, Syndromic 13
Ptosis, Iris coloboma, Chorioretinal coloboma, Microcornea OMIM:300915
Spastic Ataxia 7, Autosomal Dominant
Congenital miosis, Optic atrophy OMIM:108650
Albinism, Oculocutaneous, Type Vii
Albinism, Iris transillumination defect OMIM:615179
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Choroideremia, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract... ORPHA:2719
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Abnormality of neutrophils,... ORPHA:2720
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Cataract, Hepatomegaly, Splenomegaly ORPHA:79238
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Hematuria, Corneal neovascularization, Cataract, Eosinophilia, Opacificatio... OMIM:158310
Pituitary Apoplexy
Hypotension, Mydriasis, Hypertension, Ptosis, Normochromic anemia ORPHA:95613
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Abnormal abdomen morphology, Corneal opacity, Opacification ... OMIM:252650
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Telangiectasia, Hypertension, Retinal detachment OMIM:219250
Coats Disease
Leukocoria, Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism, Absent platelet dense granules, Epistax... OMIM:614074
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Retinal dystrophy, Hypertension, Abnormality of retinal pigmentat... ORPHA:3156
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic atrophy, Mydriasis, Epicanthus, Optic neuropathy OMIM:619727
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... OMIM:300476
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Ocular albinism, Albinism, Generalized hypopigmentation, Epistaxis... OMIM:614077
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex OMIM:615147
Congenital Hydrocephalus
Macular hypoplasia, Downslanted palpebral fissures, Iris coloboma, Optic atrophy ORPHA:2185
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Arachnoid Cyst
Urinary incontinence, Cranial nerve compression, Mydriasis, Urinary bladder sphincter dysfunction... ORPHA:2356
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Ptosis, Iris coloboma, Palpebral edema ORPHA:1259
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract, Micropenis OMIM:610156
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Deafness-Hypogonadism Syndrome
Heterochromia iridis, Congenital stationary night blindness, Epicanthus ORPHA:90646
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Abnormality of the peritoneum, Hyperte... ORPHA:1764
Sturge-Weber Syndrome
Pulmonary embolism, Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telan... ORPHA:3205
Alexander Disease
Microcoria OMIM:203450
Knobloch Syndrome 1
Horizontal eyebrow, Bifid ureter, Peripapillary atrophy, Iris transillumination defect, Epicanthu... OMIM:267750
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Mydriasis, Abnormal autonomic nervous system physiology, Thin eyebrow, Choreoath... ORPHA:2131
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon, Prolonged QT interval, Arrhythmia ORPHA:2151
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Tonne-Kalscheuer Syndrome
Downslanted palpebral fissures, Hypospadias, Tremor, Blue irides, Micropenis OMIM:300978
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Cataract, Epicanthus, Microcornea ORPHA:2528
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascul... OMIM:120200
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... OMIM:212550
Cocaine Intoxication
Hypotension, Tubulointerstitial nephritis, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemo... ORPHA:90068
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Epicanthus ORPHA:85288
Congenital Rubella Syndrome
Anemia, Aplasia/Hypoplasia of the iris, Jaundice, Abnormality of retinal pigmentation, Cataract, ... ORPHA:290
Infantile Spasms-Broad Thumbs Syndrome
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Cataract, Optic disc pallor ORPHA:3173
Bickerstaff Brainstem Encephalitis
Mydriasis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous system... ORPHA:79138
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Hypoplasia of the iris, Iris hypop... OMIM:611584
Maternally-Inherited Diabetes And Deafness
Retinopathy, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Hypertrop... ORPHA:225
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the liver, Cataract, Tremor, Intention... OMIM:614307
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... ORPHA:3163
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Congenital Microcoria
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... ORPHA:566
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Rod-cone dystrophy, Microcornea OMIM:619082
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Waardenburg Syndrome, Type 1
Premature graying of hair, Blepharophimosis, Synophrys, White eyelashes, White eyebrow, Hypoplast... OMIM:193500
Hermansky-Pudlak Syndrome 9
Leukopenia, Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus, Thromb... OMIM:614171
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Anuria, Mydriasis, Pyelonephritis, Megac... OMIM:619351
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Hypopigmente... ORPHA:1784
Baraitser-Winter Cerebrofrontofacial Syndrome
Downslanted palpebral fissures, Epicanthus, Transient ischemic attack, Hydroureter, Long palpebra... ORPHA:2995
Wyburn-Mason Syndrome
Retinal vascular malformation, Cerebral hemorrhage, Iris hypopigmentation, Epistaxis, Subarachnoi... ORPHA:53719
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Epicanthus, Hand tremor, Blue irides, Upslanted palpebral fissure, Micropenis ORPHA:3041
Scorpion Envenomation
Mydriasis, Ketonuria, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block,... ORPHA:466677
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Zika Virus Disease
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Optic disc h... ORPHA:448237
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Duane Retraction Syndrome
Abnormal pupil morphology, Short palpebral fissure, Irregular hyperpigmentation, Blepharospasm, P... ORPHA:233
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Cataract, Hepatomegaly OMIM:614876
Downslanted palpebral fissures, Epicanthus, Iris coloboma, Cataract, Hepatomegaly ORPHA:79326
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Optic atrophy, Epicant... OMIM:152950
Waardenburg Syndrome Type 1
Premature graying of hair, Aganglionic megacolon, White eyelashes, Synophrys, White eyebrow, Hypo... ORPHA:894
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Astigmatism, Hypoplasia of the fovea, Hypopigmentation of hair, Blue i... OMIM:203100
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... ORPHA:79430
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Epicanthus, Intrahepatic biliary dysgenesis, Hepatosplenomegaly, Hepatomegaly, Ren... OMIM:614866
8Q21.11 Microdeletion Syndrome
Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Iris hypopigmentation, Hypoplasia o... ORPHA:284160
Wolfram Syndrome 1
Hydronephrosis, Megaloblastic anemia, Optic atrophy, Neurogenic bladder, Hydroureter, Sideroblast... OMIM:222300
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Cataract, Limb tremor OMIM:616647
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:612572
Warburg-Cinotti Syndrome
Epicanthus, Blepharophimosis, Limbal stem cell deficiency, Retinal dystrophy, Narrow palpebral fi... OMIM:618175
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Mevalonic Aciduria
Downslanted palpebral fissures, Cataract, Splenomegaly ORPHA:29
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Noonan Syndrome 4
Hydronephrosis, Downslanted palpebral fissures, Sparse eyebrow, Bilateral ptosis, Epicanthus, Hyp... OMIM:610733
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Depigmented fundus, Ocular albinism OMIM:300500
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrom... OMIM:609049
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Ptosis, Cataract, Epicanthus ORPHA:1373
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Attenuation of retinal blood vessels, Optic atrophy OMIM:165510
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Cataract, Hepatomegaly, Optic disc pallor OMIM:613730
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Optic atrophy, Epicanthus, Retinal arteriolar tortuosity, Abnormality o... ORPHA:567
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Abnormal renal physiology, Pt... OMIM:266500
Kid Syndrome
Conjunctivitis, Sparse eyebrow, Corneal erosion, Limbal stem cell deficiency, Keratoconjunctiviti... ORPHA:477
Piebaldism, Aganglionic megacolon, White eyelashes, White eyebrow, Synophrys, Hypopigmented skin ... ORPHA:2884
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Anterior chamber flare, Choroidal neovascularization, Cystoid macular edema, Mild ... ORPHA:91500
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Cofs Syndrome
Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Alagille Syndrome
Abnormal pupil morphology, Downslanted palpebral fissures, Nephrotic syndrome, Hypertension, Redu... ORPHA:52
Retinitis Pigmentosa
Optic atrophy, Hypoplasia of penis, Abnormality of retinal pigmentation, Cataract, Keratoconus, A... ORPHA:791
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Cataract ORPHA:2278
Revesz Syndrome
Megalocornea, Leukocoria, Exudative retinopathy, Bone marrow hypocellularity, Fine, reticulate sk... OMIM:268130
Spastic Paraplegia 5A, Autosomal Recessive
Urinary incontinence, Postural tremor, Cataract, Optic atrophy OMIM:270800
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Rod-cone dystrophy, Optic atrophy, Intention tremor, Cataract, Decreased nerve conduction velocit... OMIM:612674
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, Aganglionic megacolon, White forelock, Hete... OMIM:172800
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Hypospadias, Blue irides OMIM:614613
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Abnormal fundus morphology, Ocular albinism ORPHA:370091
Harel-Yoon Syndrome
Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy,... OMIM:617183
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Vitiligo, Cat... ORPHA:3437
Trisomy 9P
Abnormal pupil morphology, Downslanted palpebral fissures ORPHA:236
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Ptosis, Cataract, Highly arched eyebrow OMIM:616154
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Optic atrophy, Abnormality of retinal pigmentation, Ptosis, Cataract ORPHA:44
Mowat-Wilson Syndrome
Downslanted palpebral fissures, Aganglionic megacolon, Broad eyebrow, Microcornea, Ptosis, Iris c... OMIM:235730
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... OMIM:618195
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... ORPHA:585
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste... OMIM:231550
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Usher Syndrome Type 2
Iris hypopigmentation, Cataract ORPHA:231178
Laurence-Moon Syndrome
Epicanthus, Hypoplasia of penis, Iris coloboma, Cataract, Renal insufficiency, Displacement of th... ORPHA:2377
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Calcium oxalate nephrolithiasis, Astigmatism, Optic atrophy OMIM:248000
Linear Verrucous Nevus Syndrome
Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea ORPHA:2611
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis, Cataract ORPHA:1875
Sialidosis Type 2
Abnormal macular morphology, Nephropathy, Tremor, Corneal opacity, Hepatomegaly, Ascites, Splenom... ORPHA:87876
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Developmental And Epileptic Encephalopathy 93
Iris coloboma, Optic atrophy OMIM:618012
Ch├ędiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy, Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal ... ORPHA:370959
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Aminoaciduria, Prolonged neonatal jaundice, Epicanthus, Intrahepatic biliary dy... OMIM:214100
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Oculodentodigital Dysplasia, Autosomal Recessive
Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Microcornea, Cataract, Spars... OMIM:257850
Noonan Syndrome 13
Downslanted palpebral fissures, Cafe-au-lait spot, Epicanthus, Broad eyebrow, Multiple lentigines... OMIM:619087
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... OMIM:600132
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism, Absent platelet dense granules, Epistaxis, Hypoplasia of the fovea OMIM:614073
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Downslanted palpebral fissures, Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia... OMIM:601552
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Wolf-Hirschhorn Syndrome
Rieger anomaly, Epicanthus, Biliary tract abnormality, Ptosis, Iris coloboma, Hypospadias, Access... OMIM:194190
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Angelman Syndrome
Hypopigmentation of the skin, Optic atrophy, Optic disc pallor, Fair hair, Iris hypopigmentation,... ORPHA:72
Lymphadenitis, Hypotension, Mydriasis, Tachycardia, Hepatomegaly, Arrhythmia, Hematemesis, Enlarg... ORPHA:707
Autosomal Recessive Stickler Syndrome
Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy ORPHA:250984
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Abnormal left ventricular function, Abnormal iris pigmentation OMIM:132900
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Triple A Syndrome
Iris coloboma, Generalized hyperpigmentation, Optic atrophy, Motor axonal neuropathy ORPHA:869
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Cat... ORPHA:324737
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Iris coloboma, Cataract, Epicanthus OMIM:300337
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... OMIM:615145
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Macular degeneration, Ptosis, Cataract, Intention tremor ORPHA:284289
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Chorioretinal coloboma OMIM:611638
Infantile Refsum Disease
Cardiomyopathy, Rod-cone dystrophy, Optic atrophy, Cataract, Hepatomegaly, Arrhythmia, Facial palsy ORPHA:772
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Waardenburg Syndrome, Type 4C
Premature graying of hair, Aganglionic megacolon, White eyelashes, White eyebrow, Hypopigmented s... OMIM:613266
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Pontocerebellar Hypoplasia, Type 16
Ptosis, Cataract, Optic atrophy OMIM:619527
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy, Cardiomyopathy OMIM:614879
Juvenile Xanthogranuloma
Iritis, Asymmetry of iris pigmentation, Uveitis, Multiple cafe-au-lait spots, Myeloproliferative ... ORPHA:158000
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Choreoathetosis, Dystonia, Decreased nerve conduction velocity OMIM:614932
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioreti... ORPHA:414
Phace Syndrome
Abnormality of the orbital region, Retinal vascular malformation, Lens coloboma, Optic nerve hypo... ORPHA:42775
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Agangli... ORPHA:3440
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Displacement of the urethral meatus ORPHA:893
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Abnormal auditory evoked potentials, Long eyelashes, Astigmatism,... OMIM:617523
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy OMIM:136300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Motor axonal neuropathy, Long eyelashes, Microcornea,... ORPHA:48431
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Keratoconjunctivitis, Absent lacrimal punctum, Limbal stem cell deficiency... ORPHA:2363
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Congenital Disorder Of Glycosylation, Type Ii
Upslanted palpebral fissure, Epicanthus, Iris coloboma, Cataract, Hepatomegaly, Iron deficiency a... OMIM:607906
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Warburg Micro Syndrome 1
Ptosis, Optic atrophy, Developmental cataract, Microcornea OMIM:600118
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration, Microcornea OMIM:615458
Leber Hereditary Optic Neuropathy
Postural tremor, Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia, Arrhythmia, ... ORPHA:104
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Catar... OMIM:256550
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Abnormality of the tonsils, Hepatomegaly, Sp... ORPHA:93476
Baralle-Macken Syndrome
Urinary incontinence, Cafe-au-lait spot, Cataract, Upslanted palpebral fissure, Dystonia OMIM:619255
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Downslanted palpebral fissures, Cataract ORPHA:3433
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Heart block, Ptosis, Cataract, Renal insufficie... ORPHA:773
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
3-Methylglutaconic aciduria, Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, ... ORPHA:496790
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease, Retinal dystrophy, Astigmatism, Cataract OMIM:612285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism, Hepatomegaly, Neutropenia, Dystonia, Splenomegaly OMIM:617050
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti... OMIM:615233
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Congenital Muscular Dystrophy, Fukuyama Type
Retinal dysplasia, Cataract, Dilated cardiomyopathy, Optic atrophy ORPHA:272
Cataract 48
Cataract, Miosis OMIM:618415
Combined Saposin Deficiency
Optic atrophy, Splenomegaly, Hepatomegaly OMIM:611721
Posterior Column Ataxia With Retinitis Pigmentosa
Urinary incontinence, Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule p... OMIM:609033
Hemochromatosis, Type 4
Anemia, Cirrhosis, Hepatic steatosis, Cataract, Hepatomegaly, Arrhythmia, Hyperpigmentation of th... OMIM:606069
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Decreased motor nerve cond... ORPHA:99949
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Optic atrophy, Epicanthus, Broad eyebrow, Duplication of renal pelvis, Iris coloboma, T... ORPHA:261552
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Aortic regurgitation, Cataract, Corneal opacity, Oligosaccharid... ORPHA:309288
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Sialidosis Type 1
Aminoaciduria, Retinopathy, Urinary excretion of sialylated oligosaccharides, Increased urinary O... ORPHA:812
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea ORPHA:139471
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Albinism, Epistaxis, Abnormal ... OMIM:614075
Mevalonic Aciduria