Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Plekha5 MGI:1923802

Gene Summary

Name:

pleckstrin homology domain containing, family A member 5

Synonyms:

PEPP2, 2810431N21Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal lens morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.00×10^-06
abnormal retina morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	5.36×10^-05
enlarged urinary bladder	Plekha5^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal retina blood vessel morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	3.10×10^-06
corneal vascularization	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.87×10^-05
abnormal skin morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	0.00
persistence of hyaloid vascular system	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.26×10^-05
narrow eye opening	Plekha5^em1(IMPC)Tcp	HOM	Early adult	7.07×10^-07
increased startle reflex	Plekha5^em1(IMPC)Tcp	HOM	Early adult	4.90×10^-06
enlarged lymph nodes	Plekha5^em1(IMPC)Tcp	HOM	Early adult	0.00
fused cornea and lens	Plekha5^em1(IMPC)Tcp	HOM	Early adult	1.46×10^-06
abnormal iris pigmentation	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.81×10^-06
iris synechia	Plekha5^em1(IMPC)Tcp	HOM	Early adult	1.65×10^-06
abnormal iris morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.47×10^-05
mydriasis	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.86×10^-06
irregularly shaped pupil	Plekha5^em1(IMPC)Tcp	HOM	Early adult	3.40×10^-05
decreased mean corpuscular hemoglobin	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.47×10^-05
abnormal retina vasculature morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	1.91×10^-06
impaired pupillary reflex	Plekha5^em1(IMPC)Tcp	HOM	Early adult	1.50×10^-05
abnormal placement of pupils	Plekha5^em1(IMPC)Tcp	HOM	Early adult	1.25×10^-06
increased spleen weight	Plekha5^em1(IMPC)Tcp	HOM	Early adult	9.16×10^-06
abnormal cornea morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	4.92×10^-05
abnormal optic disk morphology	Plekha5^em1(IMPC)Tcp	HOM	Early adult	2.63×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Eye Morphology

Images Slit Lamp

94 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Eye Morphology

Images Ophthalmoscopy

91 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Electrocardiogram (ECG)

Waveform Image

1 Images

View 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.

Human diseases associated with Plekha5 (0 diseases)
Human diseases predicted to be associated with Plekha5 (850 diseases)

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	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
Megalocornea	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
Cherubism	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
Phenylketonuria	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
Galactosialidosis	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
Botulism	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
Vitreoretinochoroidopathy	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
Piebaldism	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
Plague	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
Srd5A3-Cdg	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
Trichinellosis	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
Retinoblastoma	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
Retinoblastoma	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	Macrocytic anemia, Cataract, Morning glory anomaly, Optic atrophy, Temporal optic disc pallor, Pt...	ORPHA:98673
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Tangier Disease	Hepatomegaly, Peripheral axonal neuropathy, Myocardial infarction, Cicatricial ectropion, Splenom...	OMIM:205400
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Ab...	ORPHA:636
Nail-Patella Syndrome	Keratoconus, Ptosis, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Antecubital ...	OMIM:161200
Autosomal Recessive Spastic Paraplegia Type 75	Temporal optic disc pallor, Astigmatism, Titubation	ORPHA:459056
Hermansky-Pudlak Syndrome 7	Ocular albinism, Epistaxis, Albinism	OMIM:614076
Cach Syndrome	Cataract, Optic atrophy, Renal hypoplasia, Hepatosplenomegaly, Optic neuritis, Pancreatitis	ORPHA:135
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Spinocerebellar Ataxia 7	Tremor, Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Ureteral atresia, Renal tubular aci...	ORPHA:1493
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Developmental cataract, Anemia, Vitreous hem...	OMIM:620185
Trisomy 13	Cataract, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Optic atrophy, Abnor...	ORPHA:3378
Warburg Micro Syndrome 3	Cataract, Miosis, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, B...	OMIM:614222
Congenital Disorder Of Glycosylation, Type Id	Epicanthus, Optic atrophy, Iris coloboma	OMIM:601110
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormal iris pigmentation, Antecubital pterygium, Primary cong...	ORPHA:2614
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Left ventricular hypertrophy	OMIM:618632
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology	ORPHA:250999
Muscle-Eye-Brain Disease	Cataract, Optic atrophy	ORPHA:588
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Scalp-Ear-Nipple Syndrome	Epicanthus, Cataract, Telecanthus, Palpebral edema, Renal insufficiency, Unilateral renal agenesi...	OMIM:181270
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis,...	ORPHA:1451
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism...	OMIM:203300
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Antiphospholipid Syndrome, Familial	Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl...	OMIM:107320
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Optic atrophy, Developmental cataract, Microcornea, Mi...	OMIM:615663
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Intention...	ORPHA:98890
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Distal Deletion 13Q	Optic atrophy, Iris coloboma	ORPHA:1590
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted ...	ORPHA:401777
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy	ORPHA:1914
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anem...	OMIM:611490
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Tremor, Splenomegaly, Optic atrophy, Telangiectasia, Downslanted palpebral fissures...	OMIM:608799
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Intention tremor, Optic atrophy, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Unilateral rena...	OMIM:308205
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Upslanted palpebral fissure, Ocular albinism, Blepharophimosis	ORPHA:1352
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cataract, Optic atrophy, Opto-chiasmatic atrophy, Elevated urine acetoacetic acid level, Cardiomy...	OMIM:620089
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Highly arched eyebrow, Portal hy...	ORPHA:1454
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Ptosis	OMIM:201180
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Leukopenia, Chorioretinal hypopigmentation, Macrovesicular hepatic steatosis, Neutrope...	OMIM:617303
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Optic atrophy, Microcornea, Iris c...	ORPHA:3301
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc...	OMIM:249270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Dilated cardiomyopathy, Optic atrophy...	OMIM:253800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Dystonia, Optic atrophy, Anemia, Choreoathetosis, Renal tubula...	ORPHA:289916
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Cataract, Tremor, Developmental glaucoma, Optic ...	ORPHA:99956
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Cataract, Optic atrophy, Upslanted palpebral f...	OMIM:619833
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Dystonia, Hypertrophic cardiomyopa...	OMIM:252011
Adams-Oliver Syndrome 2	Narrow palpebral fissure, Optic atrophy, Developmental cataract	OMIM:614219
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy, ...	ORPHA:168549
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension, Ptosis	OMIM:615510
Neurotrophic Keratopathy	Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem...	ORPHA:137596
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Facial palsy, Action tremor, Optic atrophy, Cardiomyopathy, Optic ne...	ORPHA:254886
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Jaberi-Elahi Syndrome	Cataract, Sparse eyelashes, Sparse eyebrow, Tremor, Optic atrophy, Choreoathetosis, Dystonia	OMIM:617988
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Microcytic anemia, Abnormal optic disc morphology, Decreased corneal thick...	ORPHA:293967
Alg8-Cdg	Cataract, Optic atrophy, Anemia, Ascites, Retinopathy, Thrombocytopenia	ORPHA:79325
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Ab...	OMIM:216360
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Peripheral demyelination, Ret...	OMIM:272200
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Nodular re...	ORPHA:247691
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar...	OMIM:216900
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Downslanted palpebral fissures, Iris c...	OMIM:615219
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Intention tremor	OMIM:620221
Jacobsen Syndrome	Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal du...	OMIM:147791
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Optic atrophy, Anemia, Leukopenia, Choreoat...	ORPHA:27
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Highly arched eyebrow, Heart murmur, Anisocoria, Narrow palpebral fissure, Vesicouret...	OMIM:618653
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervou...	OMIM:598500
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior ch...	ORPHA:2479
Thiamine-Responsive Megaloblastic Anemia Syndrome	Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atr...	ORPHA:49827
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, Microcornea, R...	ORPHA:2510
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Optic atrophy, Microcornea, Keratoconjunctivitis sicca	OMIM:234050
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R...	OMIM:229200
Oculocerebrorenal Syndrome Of Lowe	Hypercalciuria, Renal insufficiency, Cataract, Corneal opacity, Chorioretinal dysplasia, Proteinu...	ORPHA:534
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydroureter, Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Urethral s...	OMIM:604292
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Prolonged neonatal jaundice, Aplasia/Hypo...	ORPHA:423479
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Leber Optic Atrophy And Dystonia	Athetosis, Optic atrophy, Leber optic atrophy, Dystonia	OMIM:500001
Prader-Willi Syndrome	Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Generaliz...	OMIM:176270
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormality of the ocul...	ORPHA:141099
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Epicanthus, Cataract, Optic atrophy, Cystic re...	OMIM:220500
Myopathy With Extrapyramidal Signs	Hepatomegaly, Peripheral axonal neuropathy, Epicanthus, Tremor, Splenomegaly, Leukocytosis, Optic...	OMIM:615673
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Developmental cataract, Microcornea, Micropenis	OMIM:614225
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Urinary incontinence, Tremor, Urinary urgency, Abnormal au...	OMIM:146500
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cataract, Hydronephrosis	OMIM:620327
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Optic atrophy, Cardiomyopathy, Dystonia, Ptosis	ORPHA:401768
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Stellate ...	ORPHA:177907
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hepatomegaly, Cataract, Renal insufficiency, Proteinuria, Hy...	ORPHA:90321
Cockayne Syndrome Type 3	Microcornea, Premature graying of hair, Lentiglobus, Retinal degeneration, Intention tremor, Hepa...	ORPHA:90324
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Pancreatitis, Dystonia	OMIM:618230
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a...	OMIM:216550
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning	OMIM:618970
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Portal hypertens...	OMIM:619487
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma...	ORPHA:193
Neuhauser Syndrome	Iridodonesis, Epicanthus, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures	OMIM:249310
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ...	OMIM:609541
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Torsion dystonia, Blepharoph...	ORPHA:1252
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Xanthelasma, Abnormality of ...	OMIM:213700
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Freckling	OMIM:610651
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism, Increased size of nasopharyngeal adenoids	OMIM:619769
Acro-Renal-Ocular Syndrome	Epicanthus, Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Horsesho...	ORPHA:959
Gm1 Gangliosidosis	Generalized dystonia, Corneal opacity, Abnormal retinal vascular morphology, Splenomegaly, Tremor...	ORPHA:354
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Astigmatism, Optic atrophy, Dystonia	OMIM:616875
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp...	ORPHA:98754
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Marinesco-Sjögren Syndrome	Cataract, Optic atrophy	ORPHA:559
Developmental And Epileptic Encephalopathy 48	Long palpebral fissure, Optic disc pallor, Rod-cone dystrophy, Long eyelashes	OMIM:617276
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Hydroureter, Sparse eyelashes, Sparse eyebrow, Dacryocystitis, Blue irides, Vesicour...	OMIM:129900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp...	ORPHA:98793
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Bilateral ptosis, Optic atrophy, Cardiomyopathy, Abnormal re...	ORPHA:1215
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Abnormality of ski...	ORPHA:744
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp...	ORPHA:177904
Superficial Siderosis	Subarachnoid hemorrhage, Functional abnormality of the bladder, Abnormality of the vestibulocochl...	ORPHA:247245
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp...	ORPHA:177901
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Chops Syndrome	Cataract, Splenomegaly, Synophrys, Optic atrophy, Horseshoe kidney, Long eyelashes, Vesicouretera...	OMIM:616368
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytope...	OMIM:613179
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Microvesi...	OMIM:610198
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, H...	ORPHA:394
Blau Syndrome	Large vessel vasculitis, Abnormality of the liver, Abnormal optic nerve morphology, Posterior uve...	ORPHA:90340
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Epicanthus, Cataract, Renal insufficiency, Proteinuria, Optic atroph...	OMIM:251300
3C Syndrome	Hypoplasia of penis, Hypospadias, Optic atrophy, Hydronephrosis, Chorioretinal coloboma, Pulmonic...	ORPHA:7
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Xanthelasma, Corneal arcus, Sto...	OMIM:210250
Tangier Disease	Orange discolored tonsils, Peripheral axonal neuropathy, Corneal opacity, Chronic noninfectious l...	ORPHA:31150
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Atrioventricular block, Abnormality of the orbital region, Hypertension, Pterygium, ...	ORPHA:371428
Leigh Syndrome	Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Ptosis	OMIM:256000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Oculodentodigital Dysplasia	Epicanthus, Cataract, Neurogenic bladder, Optic atrophy, Abnormality iris morphology, Microcornea...	ORPHA:2710
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Cri-Du-Chat Syndrome	Epicanthus, Cataract, Hypospadias, Optic atrophy, Premature graying of hair, Downslanted palpebra...	OMIM:123450
Mucopolysaccharidosis Type 1	Corneal opacity, Abnormality of the tonsils, Splenomegaly, Congestive heart failure, Optic atroph...	ORPHA:579
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Head titubation, Optic atrophy, Hypospadias, Intention tremor	OMIM:618688
Carpenter Syndrome	Abnormal cornea morphology, Polysplenia	ORPHA:65759
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Leptospirosis	Papilledema, Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary ca...	ORPHA:509
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Cataract, Urinary incontinence, Optic atrophy, Head tremor	ORPHA:314404
Trisomy 8P	Heart murmur, Micropenis, Upslanted palpebral fissure, Nephrocalcinosis, Astigmatism, Aplasia/Hyp...	ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr...	OMIM:236670
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Down Syndrome	Epicanthus, Aganglionic megacolon, Brushfield spots, Upslanted palpebral fissure, Myeloproliferat...	OMIM:190685
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaci...	OMIM:617913
Carpenter Syndrome 1	Epicanthus, Telecanthus, Hydroureter, Optic atrophy, Microcornea, Polysplenia, Opacification of t...	OMIM:201000
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Abnormal choriore...	ORPHA:564
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hyperpigmentat...	ORPHA:231226
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Astigmatism, Retinal vascular tortuosity, Micropenis, Rod-cone dystroph...	OMIM:619471
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tricuspid regurgitation, Optic atrophy, Right bundle branch block, Mitral regurgitation, Astigmatism	OMIM:619576
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu...	OMIM:194380
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Conjunctivitis, Tricuspid regurgitation, Hepatosplenomegaly, Nephrotic syndrome, Anem...	ORPHA:505248
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Mitral regurgitation, Hepatosplenome...	ORPHA:309155
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi...	ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Optic atrophy, Horseshoe kidney, Choreoathetosis, Dystonia, Ptosis	OMIM:617664
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Gapo Syndrome	Keratoconus, Hepatomegaly, Epicanthus, Sparse eyelashes, Facial palsy, Retinal arteriolar tortuos...	OMIM:230740
De Sanctis-Cacchione Syndrome	Entropion, Hypermelanotic macule, Keratitis, Axonal degeneration, Optic atrophy, Telangiectasia, ...	OMIM:278800
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Astigmatism, Optic atrophy, Vitiligo	ORPHA:480898
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Nasolacrimal duct...	ORPHA:440727
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Entropion, Hypermelanotic macule, Telangiectasia of the sk...	ORPHA:910
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte...	OMIM:249660
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Corneal opacity, Atria...	ORPHA:137675
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Tremor, Nephrocalcinosis, Vesicouretera...	ORPHA:904
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Sple...	OMIM:615512
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar...	ORPHA:436271
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph...	ORPHA:324
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Optic Atrophy 8	Mitral regurgitation, Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory...	OMIM:616648
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst...	OMIM:259900
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Optic atrophy, Bradycardia, Dystonia, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Anemia, Developmental cataract	OMIM:127000
Joubert Syndrome 1	Optic disc pallor, Epicanthus, Retinal dystrophy, Highly arched eyebrow, Optic disc coloboma, Ren...	OMIM:213300
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Optic atrophy, Corneal scarring, Hypertension, Ascites, Attenua...	OMIM:610965
Crouzon Syndrome	Keratitis, Conjunctivitis, Optic atrophy, Shallow orbits	OMIM:123500
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Cockayne Syndrome	Miosis, Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration,...	ORPHA:191
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at...	OMIM:259710
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati...	OMIM:308300
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Optic atrophy, Organic aciduria, Conjunctivitis	OMIM:253260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal peripheral myelination, Abnormal auditor...	OMIM:133540
Arima Syndrome	Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney dis...	OMIM:243910
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Morning glory anomaly, Optic atrophy, Renal cyst, Intracranial...	OMIM:614424
Leigh Syndrome	Choreoathetosis, Abnormal optic nerve morphology, Complex organic aciduria, Neutropenia, Renal tu...	ORPHA:506
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Retinal atrophy, Cataract, Abnormal peripheral myelination, Ab...	OMIM:216400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar...	OMIM:220110
Williams-Beuren Syndrome	Nephrocalcinosis, Premature graying of hair, Vesicoureteral reflux, Micropenis, Pelvic kidney, Me...	OMIM:194050
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Optic atrophy	ORPHA:543470
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Urinary incontinence, Cardio...	OMIM:268800
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbi...	ORPHA:449563
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ptosis, Epicanthus, Hypospadias, Pure red cell aplasia, Erythroid hypopla...	ORPHA:124
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Hypospadias, Hyperpigmentation ...	OMIM:305000
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Upslanted p...	OMIM:617595
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol...	ORPHA:416
Gapo Syndrome	Keratoconus, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Optic atrophy, Nephrolithiasis, H...	ORPHA:2067
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Developmental cataract,...	OMIM:300166
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Hypertension, Melanocytic nevus	ORPHA:2801
Holoprosencephaly	Epicanthus, Hypoplasia of penis, Proteinuria, Highly arched eyebrow, Abnormality of the spleen, S...	ORPHA:2162
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Sparse eyebrow, Microcornea, Upslanted palpebral fiss...	OMIM:244450
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Aortic regurgitation, Hypospadias, Optic nerve hypoplasia, Facial palsy, Almon...	ORPHA:508498
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217085
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Miosis, Oculogyric crisis, Limb tremor, Blepharospasm,...	OMIM:608643
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:216866
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Heparan sulfate excretion in urin...	OMIM:309900
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Cataract, Hypoplasia of penis, Hypospadias, Abnormality ...	ORPHA:1606
Mucopolysaccharidosis Type 3	Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Cardiomegaly, Splenomegaly, Synophrys, Recu...	ORPHA:581
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp...	ORPHA:217093
Leukodystrophy, Progressive, Early Childhood-Onset	Optic disc pallor, Neurogenic bladder, Thick eyebrow, Dystonia	OMIM:617762
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Facial p...	OMIM:259700
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Vesicoureter...	OMIM:619869
Halperin-Birk Syndrome	Long eyelashes, Optic atrophy, Developmental cataract	OMIM:618651
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Persistence of hemoglobin F, Increased mean corpuscular volu...	OMIM:300946
Joubert Syndrome 8	Hepatomegaly, Optic disc pallor, Pigmentary retinopathy, Prolonged neonatal jaundice, Ptosis	OMIM:612291
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki...	OMIM:608328
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Blepharospasm, Athetosis, Pigmentary retinopathy, Dystonia, Cra...	OMIM:617282
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Pantothenate Kinase-Associated Neurodegeneration	Dystonia, Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Craniofacial dystonia, Leg dysto...	ORPHA:157850
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Epicanthus, Hypospadias, Microcytic anemia, HbH hemoglobin, Downslanted palpebral fissures, Aplas...	ORPHA:98791
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Long eyelashes, Optic atrophy, Ptosis	OMIM:617301
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomegaly, Hypovolem...	ORPHA:91387
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Curly eyelashes, Highly arched eyebrow, Ectopic kidney, Synophrys, Opti...	OMIM:122470
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Astigmatism, Optic atrophy	OMIM:618493
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Corneal opacity, Abnormal foveal ...	ORPHA:580
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Head tremor	ORPHA:95433
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Renal tubular dysfunction, Pigmentary retinopathy, Abnormal cornea morphology,...	ORPHA:411629
Autosomal Dominant Kenny-Caffey Syndrome	Retinal calcification, Papilledema, Anemia, Developmental cataract	ORPHA:93325
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dy...	OMIM:619167
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Abnormal hemoglobin, Hypoplasia of penis, Optic a...	ORPHA:847
Von Hippel-Lindau Disease	Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocy...	ORPHA:892
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Hypoplasia of penis, Microvesicular hepatic steatosis, Dilated cardiomyopa...	ORPHA:66634
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Splenomegaly, Abnor...	ORPHA:2072
Mogs-Cdg	Absent brainstem auditory responses, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Optic atrophy,...	ORPHA:79330
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, Conjun...	OMIM:300755
Stiff-Person Syndrome	Exaggerated startle response, Tachycardia, Opisthotonus, Hypertension, Anemia, Vitiligo	OMIM:184850
Dural Sinus Malformation	Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorr...	ORPHA:97339
Tay-Sachs Disease	Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Cherry red spo...	ORPHA:845
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Telangiectasia	OMIM:266270
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Hypospadias, Optic atrophy, Vesicoureteral reflux, Renal cyst, Multiple cafe-au-lait ...	OMIM:616975
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Hypospadias, Unilat...	ORPHA:464311
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Highly arched e...	ORPHA:309282
Apert Syndrome	Downslanted palpebral fissures, Hypertension, Corneal erosion, Optic atrophy	ORPHA:87
Vascular Ehlers-Danlos Syndrome	Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypospadias, Telangiectasia of t...	ORPHA:286
Wolf-Hirschhorn Syndrome	Epicanthus, Hypospadias, Sclerocornea, Highly arched eyebrow, Abnormality of the gallbladder, Opt...	ORPHA:280
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Dystonia, Abnormal auditory evoked potentials, Optic neuropath...	ORPHA:909
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Long eyelashes, Optic atrophy, Thick eyebrow	OMIM:617281
Gm2 Gangliosidosis, Ab Variant	Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:309246
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepa...	OMIM:260920
Combined Oxidative Phosphorylation Deficiency 37	Chorioretinal hyperpigmentation, Optic atrophy, 3-Methylglutaconic aciduria, Bile duct proliferat...	OMIM:618329
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Cataract, Hypospadias, Phimosis, Anisocoria, Intracran...	OMIM:613406
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Tremor, Optic atrophy, Developmental cataract, Intracranial ...	ORPHA:86309
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Microcytic anemia, Optic atrophy, 3-Methylglutaconic aciduria, Neutropen...	OMIM:251900
Ciliary Dyskinesia, Primary, 1	Asplenia, Abnormal cornea morphology	OMIM:244400
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Mitral regurgitation, Megalo...	ORPHA:284979
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ...	OMIM:615688
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excre...	ORPHA:79255
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Optic atrophy, Intention tremor	ORPHA:504476
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Hepatomegaly,...	ORPHA:3385
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Tremor, Thrombocytopenia, Optic atrophy, Premature graying of hair, Exuda...	OMIM:612199
Diamond-Blackfan Anemia 1	Macrocytic anemia, Epicanthus, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive hear...	OMIM:105650
Fumarase Deficiency	Increased urine succinate level, Conjunctival icterus, Intrahepatic cholestasis, Optic atrophy, E...	OMIM:606812
Aicardi Syndrome	Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Hepatobl...	OMIM:304050
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Epicanthus, Hyperoxaluria, Optic atrophy, Renal cyst, Hepatic fibrosis, Cirrhosis, ...	OMIM:601539
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy	OMIM:616811
Osteopetrosis, Autosomal Recessive 9	Papilledema, Stage 3 chronic kidney disease, Anemia	OMIM:620366
Acromelic Frontonasal Dysostosis	Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Downslanted palpebr...	OMIM:603671
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Epicanthus, Exaggerated startle response, Telecanthus, Upslanted palpebral fissure, Dystonia, Lon...	ORPHA:438216
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Narrow palpebral fissure, Abnormal optic disc morphology,...	ORPHA:96121
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Macular coloboma, Megaloblastic anemia, Hemolytic-uremic syndrome...	ORPHA:79282
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Normochromic anemia, Bradycardia, Cholelithiasis, Hype...	OMIM:618775
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Sponastrime Dysplasia	Epicanthus, Cataract, Hypospadias, Neutropenia, Microcoria, Congenital aphakia	ORPHA:93357
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Craniolenticulosutural Dysplasia	Forehead hyperpigmentation, Punctate cataract, Posterior Y-sutural cataract, Optic atrophy	OMIM:607812
Stankiewicz-Isidor Syndrome	Ureteral duplication, Abnormal optic disc morphology, Hypospadias, Micropenis	OMIM:617516
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Aganglionic megacolon, Hypoplasia of penis, Sclerocornea, Multicystic kidne...	ORPHA:818
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperpigmentation of the skin, Urinary incontinence, Acanthocytosis, Tremor, Opti...	OMIM:234200
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Epicanthus, Downslanted palpebral fissures	OMIM:617101
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Corneal opacity, Hypospadias, Unilateral renal agenesis,...	ORPHA:464306
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Crani...	ORPHA:2785
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi...	OMIM:612561
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Biotinidase Deficiency	Conjunctivitis, Organic aciduria, Optic atrophy, Optic neuropathy	ORPHA:79241
Alzahrani-Kuwahara Syndrome	Optic disc pallor, Cataract, Hypospadias, Astigmatism, Hyperpigmentation of the skin	OMIM:619268
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia	OMIM:612301
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Epicanthus, Exaggerated startle response, Truncal titubation	OMIM:618056
Joubert Syndrome 21	Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Retinopathy, Ptosis	OMIM:615636
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Ureterocele,...	OMIM:614863
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Dystonia	ORPHA:521426
Elsahy-Waters Syndrome	Cataract, Penoscrotal hypospadias, Hypospadias, Synophrys, Increased cup-to-disc ratio, Megalocor...	OMIM:211380
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Retinal hamartoma, Abnormality of the lympha...	ORPHA:538
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Optic...	ORPHA:709
Charge Syndrome	Ptosis, Epicanthus, Facial palsy, Highly arched eyebrow, Optic atrophy, Horseshoe kidney, Hydrone...	ORPHA:138
Lead Poisoning	Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Renal tubula...	ORPHA:330015
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Partial development of the penile shaft, Bradycardia	OMIM:608800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy	OMIM:617527
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Hyperekplexia 3	Exaggerated startle response, Syncope	OMIM:614618
Autosomal Dominant Hypocalcemia	Writer's cramp, Congestive heart failure, Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hypote...	ORPHA:428
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia	OMIM:615574
Neurooculorenal Syndrome	Iris atrophy, Unilateral renal agenesis, Highly arched eyebrow, Stage 2 chronic kidney disease, S...	OMIM:620305
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Epicanthus, Renal insufficiency, Retinal dystrophy, Hypospadias, Subretinal deposits, Renal corti...	ORPHA:397715
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micro...	OMIM:301040
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephroca...	OMIM:260400
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias	OMIM:250790
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Nephrocalcinosis, Nephrotic...	OMIM:146255
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Leukocytosis, Optic atrophy, Ren...	OMIM:619321
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk...	ORPHA:99867
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Almond-shaped palpebral fissure, Nephrolithiasis...	ORPHA:438213
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati...	ORPHA:64
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Epicanthus, Exaggerated startle response, Telecanthus, Urinary incontinence, ...	OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Epiblepharon, Exaggerated startle response, Thick eyebrow	OMIM:618367

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Plekha5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plekha5.

No publications found that use IMPC mice or data for Plekha5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Plekha5^{tm452423(L1L2_GT2_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Plekha5^em1(IMPC)Tcp	Exon Deletion	Mice
Plekha5^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Plekha5 MGI:1923802

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

X-ray

X-ray

Eye Morphology

X-ray

Electrocardiogram (ECG)

Human diseases caused by Plekha5 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data