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
narrow eye opening Plekha5em1(IMPC)Tcp HOM   Early adult 7.07×10-07
corneal vascularization Plekha5em1(IMPC)Tcp HOM   Early adult 2.87×10-05
irregularly shaped pupil Plekha5em1(IMPC)Tcp HOM   Early adult 3.40×10-05
abnormal lens morphology Plekha5em1(IMPC)Tcp HOM   Early adult 2.00×10-06
abnormal placement of pupils Plekha5em1(IMPC)Tcp HOM Early adult 1.25×10-06
abnormal retina blood vessel morphology Plekha5em1(IMPC)Tcp HOM   Early adult 3.10×10-06
abnormal retina morphology Plekha5em1(IMPC)Tcp HOM   Early adult 5.36×10-05
mydriasis Plekha5em1(IMPC)Tcp HOM   Early adult 2.86×10-06
increased spleen weight Plekha5em1(IMPC)Tcp HOM Early adult 9.16×10-06
abnormal cornea morphology Plekha5em1(IMPC)Tcp HOM   Early adult 4.92×10-05
abnormal optic disk morphology Plekha5em1(IMPC)Tcp HOM   Early adult 2.63×10-05
abnormal retina vasculature morphology Plekha5em1(IMPC)Tcp HOM Early adult 1.91×10-06
impaired pupillary reflex Plekha5em1(IMPC)Tcp HOM   Early adult 1.50×10-05
persistence of hyaloid vascular system Plekha5em1(IMPC)Tcp HOM   Early adult 2.26×10-05
abnormal skin morphology Plekha5em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Plekha5em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Plekha5em1(IMPC)Tcp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Plekha5em1(IMPC)Tcp HOM Early adult 2.47×10-05
abnormal iris morphology Plekha5em1(IMPC)Tcp HOM   Early adult 2.47×10-05
fused cornea and lens Plekha5em1(IMPC)Tcp HOM   Early adult 1.46×10-06
iris synechia Plekha5em1(IMPC)Tcp HOM   Early adult 1.65×10-06
abnormal iris pigmentation Plekha5em1(IMPC)Tcp HOM   Early adult 2.81×10-06
increased startle reflex Plekha5em1(IMPC)Tcp HOM Early adult 4.90×10-06

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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 Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection


10 Images


XRay Images Whole Body Dorso Ventral

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
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis OMIM:620086
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Iridodonesis, Retinal detachment, Cataract, Miosis, Deep anterior chamber, Mosaic corneal dystrop... OMIM:309300
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Oliver-Mcfarlane Syndrome
Peripheral axonal neuropathy, Central heterochromia, Hypoplasia of penis, Long eyebrows, Pigmenta... OMIM:275400
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... OMIM:619947
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Isolated Ectopia Lentis
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral fissure OMIM:618727
Woolly Hair
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... ORPHA:170
Riboflavin Transporter Deficiency
Optic disc pallor, Ptosis, Iris hypopigmentation, Facial palsy, Tremor, Hypertension, Abnormality... ORPHA:97229
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract OMIM:300719
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... ORPHA:1390
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Horner Syndrome, Congenital
Congenital Horner syndrome, Heterochromia iridis OMIM:143000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... ORPHA:1067
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Hypospadias, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long ey... OMIM:615877
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Intermediate Uveitis
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... ORPHA:279914
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... ORPHA:54
Griscelli Syndrome Type 1
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation ORPHA:79476
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis, Ptosis ORPHA:1214
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
3-Methylglutaconic Aciduria Type 4
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation ORPHA:67048
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Miosis, Vitreous haze, Vitreous floaters, Epiretinal memb... ORPHA:280921
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Hyphema, Leukocoria, Uveitis,... OMIM:221900
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Spleno... OMIM:259720
Iatrogenic Botulism
Ptosis, Orthostatic hypotension, Urinary retention, Mydriasis ORPHA:254509
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Wound Botulism
Ptosis, Urinary retention, Cardiac arrest, Mydriasis ORPHA:178475
Intestinal Botulism
Ptosis, Mydriasis ORPHA:178481
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Toxin-Mediated Infectious Botulism
Ptosis, Mydriasis ORPHA:230800
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Uveitis, Keratoconjun... OMIM:617388
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, ... OMIM:175780
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Abn... ORPHA:101082
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Downsl... ORPHA:2969
Distal Deletion 6P
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... ORPHA:96125
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Nephrolithiasis, Mydriasis OMIM:619365
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Macular scar, Optic neuropathy, Lower eyelid retraction, Marcus Gunn pupil, Submandibular lymph n... OMIM:118400
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair, Heterochromia iridis ORPHA:66633
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Motor axonal neuropathy, Mydriasis ORPHA:247815
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Inhalational Botulism
Ptosis, Urinary retention, Mydriasis ORPHA:254504
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Cataract, Palpebral edema, Brushfield ... OMIM:214110
Foodborne Botulism
Ptosis, Arrhythmia, Urinary retention, Mydriasis ORPHA:228371
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Abnormality of skin pigmentation, Athetosis, Nephrotic s... ORPHA:834
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conj... OMIM:278730
Infant Botulism
Mydriasis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Ptosis ORPHA:178478
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Telecanthus, Aganglionic megacolon, Hypopigmented skin patches, Prematu... ORPHA:895
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... ORPHA:2119
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Spondylo-Ocular Syndrome
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Iris h... ORPHA:85194
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... OMIM:204200
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, White... ORPHA:79432
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Chediak-Higashi Syndrome
Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy... OMIM:214500
Optic Atrophy 2
Tremor, Optic atrophy OMIM:311050
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Cataract, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvic acid level, B... OMIM:261600
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Miller Fisher Syndrome
Anisocoria, Ptosis, Facial palsy, Mydriasis ORPHA:98919
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... ORPHA:1791
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cherry red spot of the macula, Corneal opacity ORPHA:351
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Serotonin Syndrome
Tachycardia, Tremor, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Acut... ORPHA:43116
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Arrhythmia, Urinary retention, Mydriasis ORPHA:1267
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
2Q24 Microdeletion Syndrome
Coloboma, Cataract, Downslanted palpebral fissures, Abnormality iris morphology ORPHA:1617
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, An... OMIM:180500
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Optic atrophy, Sensory axonal neuropathy, Cataract ORPHA:329314
Waardenburg Syndrome, Type 3
Telecanthus, Aganglionic megacolon, Partial albinism, Synophrys, Blue irides, Hypopigmented skin ... OMIM:148820
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Hepatomegaly, Lagophthalmos, Nodular regenerative hyp... ORPHA:404454
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy, Congenital miosis OMIM:108650
Nephronophthisis 11
Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Hepatic fibro... OMIM:613550
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Zellweger Syndrome
Hepatomegaly, Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Multicyst... ORPHA:912
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... ORPHA:79098
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platele... OMIM:619172
Methionine Malabsorption Syndrome
Aminoaciduria, White hair, Blue irides OMIM:250900
Ceroid Lipofuscinosis, Neuronal, 9
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy OMIM:609055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Mucolipidosis Iv
Corneal opacity, Abnormal abdomen morphology, Optic atrophy, Opacification of the corneal stroma,... OMIM:252650
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma OMIM:615147
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Leukocoria, Telangiectasia OMIM:219250
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... ORPHA:3214
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Epicanthus, Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae, Abnormal B cell morpholog... OMIM:618223
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis OMIM:300915
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, Ocular albinism, Ir... OMIM:614074
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness, Epicanthus, Heterochromia iridis ORPHA:90646
Congenital Hydrocephalus
Downslanted palpebral fissures, Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
Unilateral Ocular Duplication
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma ORPHA:3374
Woolly Hair Nevus
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, Generalized hypop... OMIM:617306
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ureteral stenosis, Ocular albinis... ORPHA:2719
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... ORPHA:3205
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigma... OMIM:614077
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Craniotubular Dysplasia, Ikegawa Type
Epicanthus, Optic neuropathy, Optic atrophy, Optic nerve compression, Mydriasis OMIM:619727
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Band keratopathy, Chorioretinal a... OMIM:267750
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Pituitary Apoplexy
Mydriasis, Hypertension, Normochromic anemia, Hypotension, Ptosis ORPHA:95613
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalize... ORPHA:2720
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis ORPHA:1259
Familial Dysautonomia
Abnormal peritoneum morphology, Orthostatic hypotension, Renal insufficiency, Corneal opacity, Ta... ORPHA:1764
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... OMIM:204000
Tonne-Kalscheuer Syndrome
Hypospadias, Tremor, Blue irides, Micropenis, Downslanted palpebral fissures OMIM:300978
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Arachnoid Cyst
Urinary incontinence, Facial palsy, Mydriasis, Subarachnoid hemorrhage, Cranial nerve compression... ORPHA:2356
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Abnormal autonomic nervo... ORPHA:2131
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Keratoconjunctivitis, Hematuria, Melena, Opacification of the corneal str... OMIM:158310
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Hydroureter, Highly arched eyebrow, Transient ischemic ... ORPHA:2995
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anis... ORPHA:45358
Hermansky-Pudlak Syndrome 9
Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Hypopigmentation of the skin, Thromb... OMIM:614171
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Waardenburg Syndrome, Type 1
Telecanthus, White eyelashes, White eyebrow, Thick eyebrow, Partial albinism, Synophrys, Blue iri... OMIM:193500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... ORPHA:90068
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ptosis, Facial palsy, Mydriasis, Anisocoria, Abnormali... ORPHA:79138
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Downslanted palpebral fissures ORPHA:3173
Alexander Disease
Microcoria OMIM:203450
Wyburn-Mason Syndrome
Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Retinal vascular malformation, Iris hypo... ORPHA:53719
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia ORPHA:2151
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Hypospadias, ... OMIM:614866
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Blepharophimosis, ... ORPHA:233
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Epicanthus, Blue irides, Hand tremor, Upslanted palpebral fissure, Micropenis, Cafe-au-lait spot ORPHA:3041
Short Syndrome
Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the... ORPHA:3163
Warburg-Cinotti Syndrome
Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc... OMIM:618175
Acrofrontofacionasal Dysostosis
Hypospadias, Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebral... ORPHA:1784
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Am... ORPHA:91500
Albinism, Ocular, Type I
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus OMIM:300500
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Miosis, Corneal scarring, Bupht... OMIM:212550
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Renal insufficiency, Cataract, Hypopigmentation of hair, Partial alb... ORPHA:79430
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery p... OMIM:619351
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi... OMIM:609049
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Tremor, Op... OMIM:222300
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Throm... ORPHA:290
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Ketonuria, Miosis, Tachycardia, Cardiac conduction abnor... ORPHA:466677
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Hypopigmentation of hair, Syn... ORPHA:894
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract ORPHA:324416
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology ORPHA:370091
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Hypoplasia of the thymus, Vesicoureteral reflux, Hypospadias, Abnorma... ORPHA:567
Edinburgh Malformation Syndrome
Brushfield spots, Synophrys ORPHA:1895
Congenital Microcoria
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... ORPHA:566
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Noonan Syndrome 4
Ureteral duplication, Epicanthus, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulmonic stenosi... OMIM:610733
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Hypoplasia of penis, ... ORPHA:284160
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Revesz Syndrome
Aplastic anemia, Leukocoria, Fine, reticulate skin pigmentation, Exudative retinopathy, Bone marr... OMIM:268130
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Kid Syndrome
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun... ORPHA:477
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Hyperpigmentation of the skin, Optic atrophy, Anisocoria, Abnormal auton... OMIM:231550
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Tremor, Splenomegaly, Nephropathy, Ascites, Abnormal macular morph... ORPHA:87876
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... ORPHA:2884
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Upslanted p... OMIM:617183
Mowat-Wilson Syndrome
Cataract, Aganglionic megacolon, Hypospadias, Microcornea, Ectopia pupillae, Chorioretinal colobo... OMIM:235730
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy, Calcium oxalate nephrolithiasis OMIM:248000
Angelman Syndrome
Keratoconus, Optic disc pallor, Ptosis, Tremor, Optic atrophy, Astigmatism, Fair hair, Hypopigmen... ORPHA:72
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormality of the liver, Ptosis ORPHA:44
Alagille Syndrome
Keratoconus, Hepatomegaly, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morpholo... ORPHA:52
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Spastic Paraplegia 5A, Autosomal Recessive
Postural tremor, Cataract, Optic atrophy, Urinary incontinence OMIM:270800
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides, Hypospadias OMIM:614613
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Hepatomegaly, Sple... ORPHA:585
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular... OMIM:615145
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Optic disc pallor, Epicanthus, Cataract, Hepatomegaly, Hypospadi... OMIM:214100
Piebald Trait
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... OMIM:172800
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Absent platelet dense granules, Epistaxis, Albinism, Ocular albinism OMIM:614073
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Trisomy 9P
Abnormal pupil morphology, Downslanted palpebral fissures ORPHA:236
Leber Hereditary Optic Neuropathy
Postural tremor, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascul... ORPHA:104
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Blue irides, Mitral regurgita... OMIM:619087
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Triple A Syndrome
Generalized hyperpigmentation, Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Generalized dystonia, Optic di... OMIM:619389
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Chorioretinal coloboma OMIM:611638
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph no... ORPHA:707
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Combined Saposin Deficiency
Splenomegaly, Optic atrophy, Hepatomegaly OMIM:611721
Cataract, Optic disc hypoplasia, Microcytic anemia, Optic atrophy, Coloboma, Spotty hyperpigmenta... ORPHA:324737
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Long eyelashes, Downslanted ... OMIM:617523
Infantile Refsum Disease
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy ORPHA:772
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Homocystinuria, Ectopia lentis, Spherophakia, Anterior synechiae of the a... OMIM:601552
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Epicanthus, Hypospadias, Highly arched eyebrow, Biliary tract a... OMIM:194190
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Abnormal iris pigmentation, Abnormal left ventricular function OMIM:132900
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Ptosis OMIM:619527
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... ORPHA:42775
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Cataract, Optic atrophy, Retinal dysplasia ORPHA:272
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying... ORPHA:33445
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Warburg Micro Syndrome 1
Microcornea, Ptosis, Optic atrophy, Developmental cataract OMIM:600118
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Aganglionic megacolon, Synoph... ORPHA:3440
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Epistaxis, Albinism, Ocular albinism, Absent foveal reflex, Macular... OMIM:614075
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... ORPHA:2363
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Vogt-Koyanagi-Harada Disease
Retinal detachment, Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal eyelash morphology,... ORPHA:3437
Isolated Atp Synthase Deficiency
Hepatomegaly, Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglutacon... ORPHA:254913
Juvenile Xanthogranuloma
Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c... ORPHA:158000
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Neuroocular Syndrome
Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Hypoplasia of the fove... OMIM:619539
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomeg... ORPHA:309288
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Asplenia, Abnormal pupil morphology, Microcornea, Vesicoureteral reflux, We... ORPHA:261552
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Albinism, Splenomegaly, Ocular albinism, Neutropenia, Dystonia OMIM:617050
Cln3 Disease
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, ... ORPHA:228346
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Abnormal optic ne... ORPHA:863
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, U... OMIM:609033
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, U... ORPHA:496790
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Vasculitis, Optic atrophy, Uveitis, Nephrotic syndrome, Conjunctiviti... ORPHA:575
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Astigmatism OMIM:619328
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Microcornea, Persistent pupillary membrane, ... OMIM:257850
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Intracranial Hypertension, Idiopathic
Papilledema, Hypertension OMIM:243200
Oculocerebrofacial Syndrome, Kaufman Type
Absent eyebrow, Chorioretinal dystrophy, Epicanthus, Telecanthus, Optic atrophy, Microcornea, Ups... ORPHA:2707
Prune1-Related Neurological Syndrome
Retinopathy, Hypertrophic cardiomyopathy, Cataract, Optic atrophy ORPHA:544469
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Hypospadias, Optic atrophy, Vesicoureteral reflux, Astigmatism, Chorioretinal colobom... ORPHA:494344
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism, Epistaxis ORPHA:352723
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... ORPHA:790
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Epicanthus, Fair ha... OMIM:608233
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Fluctuating splenomegaly, Fluctuating... OMIM:610377
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Dystonia, Diffuse hepatic steatosis, Rod-con... OMIM:264470
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Multicystic kidney dysplasia, Telangiectasia of the skin, Leukocoria, Multipl... ORPHA:1556
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... OMIM:619260
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... OMIM:609136
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, De... ORPHA:93400
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Epicanthus, Torticollis, Optic atrophy, Unilateral facial palsy, Astigmatism, Rod-cone dystrophy OMIM:618547
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Crouzon Syndrome
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma, Ptosis ORPHA:207
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Angelman Syndrome
Hypopigmentation of the skin, Fair hair, Blue irides, Limb tremor OMIM:105830
4H Leukodystrophy
Tremor, Cataract, Optic atrophy, Dystonia ORPHA:289494
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy OMIM:617481
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Telecanthus, Hepatomegaly, Aganglionic megacolon, Hypopigmentation o... ORPHA:163746
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Miosis, Heart block, Splenome... ORPHA:773
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Cherry red spot of th... ORPHA:93399
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia OMIM:180200
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Acrodysostosis 1 With Or Without Hormone Resistance
Epicanthus, Unilateral renal agenesis, Optic atrophy, Blue irides, Melanocytic nevus OMIM:101800
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Abnormality of skin pigmentation, Coloboma OMIM:612379
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Enuresis ORPHA:289483
8P11.2 Deletion Syndrome
Hemolytic anemia, Epicanthus, Hypoplasia of penis, Retinal dystrophy, Splenomegaly, Spherocytosis... ORPHA:251066
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria, Tonic pupil, Slow pup... ORPHA:90658
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Striatonigral Degeneration, Infantile
Choreoathetosis, Optic atrophy, Dystonia OMIM:271930
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Dystonia, Splenomegaly, Optic atrophy, Anemia, Choreoathetosis... ORPHA:79312
Vici Syndrome
Albinism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutropenia, Hypopigmentatio... OMIM:242840
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Proteinuria, Abnormal retinal... ORPHA:2715
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Bilateral ptosis, Optic atrophy, Dystonia ORPHA:330050
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Angina pectoris, Splenomegaly, Lymphadenopathy ORPHA:79292
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus ORPHA:3319
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Facial Spasm
Anisocoria OMIM:134300
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Optic atrophy, Limb tremor, Peripheral demyelination OMIM:614877
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... ORPHA:899
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Epicanthus, Aplastic anemia, Retinal dystrophy, Pancreatic ... OMIM:617052
Koolen-De Vries Syndrome
Epicanthus, Cataract, Iris hypopigmentation, Vesicoureteral reflux, Upslanted palpebral fissure, ... OMIM:610443
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Optic atrophy OMIM:300928
Autosomal Dominant Optic Atrophy, Classic Form