Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
FAT atypical cadherin 1
Synonyms:
Fath,  2310038E12Rik,  mFat1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Fat1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Fat1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Holoprosencephaly... OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Hypotelorism, Anosmia, Anophthalmia, Midnasal stenosis, Choanal atres... OMIM:147250
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Holoprosencephaly 5
Semilobar holoprosencephaly, Hypotelorism, Hypertelorism, Holoprosencephaly, Lobar holoprosenceph... OMIM:609637
Holoprosencephaly 3
Single naris, Hypotelorism, Hydronephrosis, Abnormality of the nose, Midface retrusion, Depressed... OMIM:142945
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Microphthalmia, Optic disc pallor, Macular atrophy, Proptosis... OMIM:616171
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Occipital encephalocele, Retinal dysplasia, Ocular anterior segment dysge... ORPHA:324416
Proboscis Lateralis
Unilateral renal agenesis, Chorioretinal coloboma, Single naris, Anophthalmia, Hypertelorism, Hol... ORPHA:141099
Chromosome 1Q41-Q42 Deletion Syndrome
Deeply set eye, Hypotelorism, Microphthalmia, Frontal bossing, Depressed nasal bridge, Holoprosen... OMIM:612530
Cerebrooculonasal Syndrome
Craniosynostosis, Anophthalmia, Encephalocele, Frontal bossing, Prominent nasal bridge, Proboscis... OMIM:605627
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Abnormality of the fontanelles or cranial sutures, Microphthalmia, ... ORPHA:2432
Holoprosencephaly 2
Hypotelorism, Midface retrusion, Microphthalmia, Aplasia of the nose, Proboscis, Cyclopia, Holopr... OMIM:157170
Foveal Hypoplasia 2
Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cystoid ... OMIM:611040
Pyknoachondrogenesis
Stillbirth OMIM:265880
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Renal insufficiency, Cyclopia, Holoprosencephaly, Proptosis ORPHA:2165
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Iris coloboma, Cataract, Retinal detach... ORPHA:1473
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Trisomy 18
Prominent occiput, Hypertelorism, Dolichocephaly, Abnormality of retinal pigmentation, Hydronephr... ORPHA:3380
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Acalvaria
Hypertelorism, Spina bifida, Hydrocephalus, Holoprosencephaly, Calvarial skull defect ORPHA:945
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, C... OMIM:251270
Distal Monosomy 13Q
Hypertelorism, Iris coloboma, Anencephaly, Aplasia/Hypoplasia affecting the eye, Holoprosencephal... ORPHA:1590
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Holoprosencephaly 1
Hypotelorism, Micropenis, Ethmocephaly, Midface retrusion, Microphthalmia, Aplasia of the nose, P... OMIM:236100
Hartsfield Syndrome
Craniosynostosis, Lobar holoprosencephaly, Microphthalmia, Depressed nasal bridge, Hypertelorism,... ORPHA:2117
Microform Holoprosencephaly
Hypotelorism, Midnasal stenosis, Hypoplasia of penis, Choanal atresia, Narrow nasal bridge, Cyclo... ORPHA:280200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Hydrocephalus, Retinal coloboma OMIM:601794
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Exudative Vitreoretinopathy 2, X-Linked
Deeply set eye, Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal ho... OMIM:305390
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Abnormal macular morphology, H... ORPHA:97341
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Cyclopia, Holoprosencep... ORPHA:990
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia, Syndromic 5
Anophthalmia, Micropenis, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Coloboma... OMIM:610125
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Holoprosencephaly
Proteinuria, Encephalocele, Retinopathy, Hypotelorism, Anophthalmia, Choanal atresia, Spinal dysr... ORPHA:2162
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Retinal fold, Exudati... ORPHA:209956
Microphthalmia, Syndromic 12
Microphthalmia, Broad nasal tip, Anophthalmia, Wide nasal bridge OMIM:615524
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Subretinal deposits, Abnormal fundus autofluorescence imaging... ORPHA:59181
Ring Chromosome 14 Syndrome
Dolichocephaly, Pigmentary retinopathy, Depressed nasal bridge, Flat occiput, Hypertelorism, Ante... OMIM:616606
Choroideremia
Hypopigmentation of the fundus, Chorioretinal degeneration, Pigmentary retinopathy, Retinal pigme... OMIM:303100
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Coloboma, Cataract, Hematuria OMIM:120433
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Prominent nose OMIM:221950
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Retina... ORPHA:139471
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold OMIM:613517
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Iris coloboma, Hypoplasia of penis, Microphthalmia, Hydrocephalus, Ho... ORPHA:77298
Central Areolar Choroidal Dystrophy
Hypopigmentation of the fundus, Full-thickness macular hole, Retinal pigment epithelial mottling,... ORPHA:75377
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Microphthalmia, Macular atrophy, Cystoid macular ... OMIM:267760
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Coloboma, Ectopia pupillae, Hy... OMIM:615877
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Meckel Syndrome, Type 8
Anophthalmia, Encephalocele, Depressed nasal ridge, Microphthalmia, Short nose OMIM:613885
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anencephaly 2
Anencephaly, Anophthalmia, Bifid nose OMIM:619452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Hydrocephalus OMIM:614830
Pseudotrisomy 13 Syndrome
Hypotelorism, Micropenis, Renal hypoplasia, Microphthalmia, Hydrocephalus, Cyclopia, Holoprosence... OMIM:264480
Trisomy 13
Deeply set eye, Hypotelorism, Abnormality of the ureter, Anophthalmia, Hydronephrosis, Cataract, ... ORPHA:3378
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Iris coloboma ORPHA:1104
Triploidy
Hypertelorism, Iris coloboma, Cataract, Aplasia/Hypoplasia affecting the eye, Hypoplasia of penis... ORPHA:3376
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Hypotelorism, Craniosynostosis, Abnormality of retinal pigmentation, Brachycephaly... ORPHA:2163
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Cataract, Brachycephaly ORPHA:2528
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Wide nasal bridge, Microphthalmia, Prominent metop... ORPHA:1466
Walker-Warburg Syndrome
Anophthalmia, Chorioretinal dysplasia, Abnormality of the optic nerve, Microcornea, Cataract, Ret... ORPHA:899
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Dolichocephaly, Micropenis, Brachycephaly, Hypertelorism, Alobar holoprosencephaly OMIM:615433
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Craniosynostosis, Frontal encephalocele, Microphthalmia, Frontal bossing, ... ORPHA:1528
Holoprosencephaly 7
Semilobar holoprosencephaly, Hydrocephalus, Hypotelorism, Midface retrusion, Frontal bossing, Abs... OMIM:610828
Craniotelencephalic Dysplasia
Hypotelorism, Craniosynostosis, Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia, Ar... OMIM:218670
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Corneal neovascularization, Coloboma, Aniridia, A... ORPHA:2334
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule pigmentatio... OMIM:180210
Distal Monosomy 7Q36
Bulbous nose, Optic atrophy, Hypoplasia of penis, Holoprosencephaly, Abnormality of calvarial mor... ORPHA:1636
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Microphthalmia, Hypertelorism, Iris coloboma ORPHA:195
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Broad nasal tip, Hypotelorism, Underdeveloped nasal alae, Frontal bossing, Depres... ORPHA:250999
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Unilateral microphthalmos, Optic nerve hypoplasia, Corneal opacity, Optic... ORPHA:137902
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal ridge, Microcornea, Cataract, Dimple on nasal tip, Choanal atresia... ORPHA:1791
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hypospadias, Hydrocephalus ORPHA:141333
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypotelorism, Aplasia of the nose, Microphthalmia, Cyclopia, Holoprosencephaly, Iris coloboma ORPHA:3186
Gombo Syndrome
Microphthalmia OMIM:233270
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Optic atrophy, Uraciluria OMIM:274270
Muscle-Eye-Brain Disease
Cataract, Hydrocephalus, Holoprosencephaly, Meningocele, Optic atrophy ORPHA:588
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypotelorism, Absent nares, Hypoplasia of penis, Microphthalmia, Hydrocephalus, Cyclopia, Holopro... ORPHA:2166
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Carnosinuria OMIM:236130
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cleft ala nasi, Orbital encephalocele OMIM:164180
Peroxisomal Acyl-Coa Oxidase Deficiency
Wide nasal bridge, Pigmentary retinopathy, Rod-cone dystrophy, Depressed nasal bridge, Frontal bo... OMIM:264470
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Broad nasal tip, Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Retina... OMIM:152950
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
2Q24 Microdeletion Syndrome
Cataract, Microphthalmia, Coloboma, Hypertelorism, Abnormality iris morphology ORPHA:1617
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Aplasia/Hypoplasia of the macula, Retinal p... ORPHA:827
Papillorenal Syndrome
Renal cyst, Stage 5 chronic kidney disease, Horseshoe kidney, Nephrolithiasis, Lens luxation, Mor... OMIM:120330
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Microphthalmia, Coloboma, Hydrocephalus OMIM:613153
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Thanatophoric Dysplasia Type 2
Cloverleaf skull, Frontal bossing, Depressed nasal bridge, Hydrocephalus, Holoprosencephaly, Prop... ORPHA:93274
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Cyclopia, Holoprosencephaly, Anteverted nares, Short nose ORPHA:261236
Holoprosencephaly 11
Hypotelorism, Holoprosencephaly, Proptosis OMIM:614226
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Holoprosencephaly OMIM:306990
Jacobsen Syndrome
Hydrocephalus, Chorioretinal coloboma, Hypertelorism, Holoprosencephaly, Microcornea, Iris colobo... OMIM:147791
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Steinfeld Syndrome
Retinal coloboma, Aplasia of the nose, Microphthalmia, Holoprosencephaly, Iris coloboma OMIM:184705
Temtamy Syndrome
Chorioretinal coloboma, Dolichocephaly, Convex nasal ridge, Microphthalmia, Hypertelorism, Iris c... ORPHA:1777
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Nance-Horan Syndrome
Microcornea, Cataract, Retinal detachment, Microphthalmia, Prominent nasal bridge, Prominent nose ORPHA:627
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of penis, Abnormality of the nares, Brachycephaly, Hypertelorism ORPHA:66625
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Hypertelorism, Hypopigmentation of the fundus, Oligosacchariduria... ORPHA:163649
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Retinal degeneration, Retinitis, Pigmentary retinopathy, Reti... ORPHA:85128
Holoprosencephaly, Recurrent Infections, And Monocytosis
Micropenis, Holoprosencephaly, Brachycephaly OMIM:610680
Bresek Syndrome
Plagiocephaly, Renal hypoplasia, Iris coloboma, Optic nerve hypoplasia, Convex nasal ridge, Micro... ORPHA:85284
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Monosomy 18P
Microphthalmia, Holoprosencephaly, Wide nasal bridge, Brachycephaly ORPHA:1598
Lambotte Syndrome
Semilobar holoprosencephaly, Hypertelorism, Convex nasal ridge, Ocular anterior segment dysgenesis OMIM:245552
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Optic nerve hypoplasia, Aplasia of the nose, ... OMIM:301043
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Stromme Syndrome
Deeply set eye, Sclerocornea, Hydronephrosis, Microcornea, Optic nerve hypoplasia, Wide nasal bri... OMIM:243605
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Anophthalmia, Bulbous nose, Prominent nasal bridge, Anteverted nares ORPHA:411986
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Hypop... OMIM:604229
Adams-Oliver Syndrome 2
Developmental cataract, Bulbous nose, Microphthalmia, Depressed nasal bridge, Hypertelorism, Opti... OMIM:614219
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Abnormal macular morphology, Inner reti... ORPHA:49382
Monosomy 13Q14
Hypertelorism, Holoprosencephaly, Cataract, Wide nasal bridge, Microphthalmia, Retinoblastoma, Pr... ORPHA:1587
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Abnormality of retinal pigmentation, Cataract, Chronic kidney dis... ORPHA:3156
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Prominent occiput, Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Trisomy 1Q
Hypotelorism, Anophthalmia, Hydronephrosis, Multicystic kidney dysplasia, Frontal bossing, Depres... ORPHA:261344
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia, Retinal dysplasia, Coloboma OMIM:615665
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Joubert Syndrome 14
Deeply set eye, Renal cyst, Morning glory anomaly, Microphthalmia, Coloboma, Prominent nasal brid... OMIM:614424
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Wide nasal bridge, Cloverleaf skull, Frontal bossing, Microphthalmia, Large fontanelles... ORPHA:93267
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Cystoid macular edema, Subretinal deposits,... ORPHA:41751
Hydrolethalus
Deeply set eye, Anophthalmia, Anencephaly, Microphthalmia, Abnormality of the sense of smell, Hyd... ORPHA:2189
Faciothoracogenital Syndrome
Microphthalmia, Anteverted nares, Glandular hypospadias OMIM:227320
Frontonasal Dysplasia 1
Broad nasal tip, Cranium bifidum occultum, Cataract, Wide nasal bridge, Anterior basal encephaloc... OMIM:136760
Warburg Micro Syndrome 1
Deeply set eye, Developmental cataract, Microcornea, Wide nasal bridge, Microphthalmia, Anteverte... OMIM:600118
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Coloboma OMIM:300915
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Bulbous nose, Cataract, Microphthalmia, Frontal bossing, Depressed nasal bridge, Hypertelorism, S... OMIM:614105
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Midface retrusion, Microphthalmia, Abnormality of the sens... ORPHA:1135
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Wide nasal bridge, Hypoplasia of penis, Keratoconu... ORPHA:791
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Aminopterin/Methotrexate Embryofetopathy
Proptosis, Hypertelorism, Anencephaly, Wide nasal bridge, Spinal dysraphism, Hydrocephalus, Holop... ORPHA:1908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Hydrocephalus OMIM:615181
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Pierpont Syndrome
Deeply set eye, Broad nasal tip, Micropenis, Microcornea, Midface retrusion, Microphthalmia, Brac... OMIM:602342
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia... OMIM:615145
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Hypertelorism, Anophthalmia OMIM:248450
Meckel Syndrome
Anophthalmia, Ureteral duplication, Depressed nasal ridge, Sclerocornea, Microcornea, Anencephaly... ORPHA:564
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Developmental cataract, Micropenis, Cataract, Convex nasal ridge, Microphthalmia,... OMIM:610756
Anterior Segment Dysgenesis 2
Congenital aphakia, Sclerocornea, Cataract, Microcornea, Anterior segment of eye aplasia, Peters ... OMIM:610256
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Hyperthreoninur... OMIM:204000
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Holoprosencephaly, Hydranencephaly ORPHA:2570
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Retinal detachment, Retinal dysplasia, Microphthalmia, Hydrocephalus, Holoprosencephaly... OMIM:253800
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Keratoconus, Enceph... ORPHA:65
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Wormian bones, Exudative vitreoretinopathy, Retinal detachmen... ORPHA:2788
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Microphthalmia, Isolated 8
Microphthalmia, Coloboma, Retinal detachment, Optic nerve hypoplasia OMIM:615113
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration, Hypoplasia of penis, Central heterochromia OMIM:275400
Retinitis Pigmentosa 47
Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Optic disc pallor, Macular degeneration, Macular atrophy, Peri... OMIM:600138
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Cataract, C... OMIM:221900
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Holoprosencephaly OMIM:601357
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Wide nasal bridge, Microphthalmia, Brachycephaly, Hypertelorism OMIM:613456
Holoprosencephaly 4
Semilobar holoprosencephaly, Hypotelorism, Depressed nasal bridge, Depressed nasal tip, Absent na... OMIM:142946
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Underdeveloped nasal alae, Coronal craniosynostosis, Microphthalmia, Frontal bossi... ORPHA:228390
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Nephrolithiasis, Hematuria, Abnormality of retinal pigmentation, Macular ... ORPHA:2196
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Abnormally large globe, Cataract, Microphthalmia, Coloboma, Hydrocephalus OMIM:615249
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Pigmentary retinopathy OMIM:610951
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Abnormality of the fontanelles or... ORPHA:290
Pierpont Syndrome
Deeply set eye, Hypertelorism, Microcornea, Microphthalmia, Brachycephaly, Wide nasal ridge ORPHA:487825
Semilobar Holoprosencephaly
Single naris, Hypotelorism, Depressed nasal ridge, Neural tube defect, Proboscis, Hydrocephalus, ... ORPHA:220386
Alobar Holoprosencephaly
Single naris, Hypotelorism, Depressed nasal ridge, Neural tube defect, Proboscis, Hydrocephalus, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Single naris, Hypotelorism, Depressed nasal ridge, Neural tube defect, Proboscis, Hydrocephalus, ... ORPHA:93926
Lobar Holoprosencephaly
Single naris, Hypotelorism, Depressed nasal ridge, Neural tube defect, Proboscis, Hydrocephalus, ... ORPHA:93924
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Plagiocephaly, Anophthalmia, Dolichocephaly, Corneal dystroph... ORPHA:1101
Microphthalmia With Limb Anomalies
Anophthalmia, Flared nostrils, Microphthalmia, Frontal bossing, Depressed nasal bridge, Short nose OMIM:206920
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Anophthalmia, Cataract, Hypoplasia of penis, Microphthalmia,... ORPHA:2250
Warburg Micro Syndrome 2
Developmental cataract, Micropenis, Microcornea, Cataract, Microphthalmia, Prominent nasal bridge... OMIM:614225
Holoprosencephaly 9
Single naris, Hypotelorism, Anophthalmia, Micropenis, Optic nerve hypoplasia, Midface retrusion, ... OMIM:610829
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Deeply set eye, Cataract, Prominent nasal bridge OMIM:214150
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis OMIM:601370
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Oculotrichoanal Syndrome
Microphthalmia, Hypertelorism, Anophthalmia, Bifid nasal tip ORPHA:2717
Neonatal Adrenoleukodystrophy
Dolichocephaly, Abnormality of retinal pigmentation, Cataract, Wide nasal bridge, Wide anterior f... ORPHA:44
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Xk Aprosencephaly Syndrome
Microphthalmia, Hypotelorism, Abnormality of the nares ORPHA:3469
Ring Chromosome 21 Syndrome
Multiple cafe-au-lait spots, Holoprosencephaly ORPHA:1445
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Optic ner... ORPHA:79435
Microphthalmia, Syndromic 3
Anophthalmia, Micropenis, Sclerocornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Frontal... OMIM:206900
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Diprosopus
Abnormality of retinal pigmentation, Abnormality of the nose, Anencephaly ORPHA:1681
Warburg Micro Syndrome 4
Deeply set eye, Developmental cataract, Micropenis, Microcornea, Microphthalmia, Prominent nasal ... OMIM:615663
Joubert Syndrome 37
Deeply set eye, Hypertelorism, Micropenis, Hydronephrosis, Wide nasal bridge, Microphthalmia, Fro... OMIM:619185
49,Xxxxy Syndrome
Hypertelorism, Depressed nasal ridge, Hypoplasia of penis, Depressed nasal bridge, Brachycephaly,... ORPHA:96264
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentati... ORPHA:85194
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation, Hydrocephalus ORPHA:858
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Joubert Syndrome 28
Pigmentary retinopathy, Hypertelorism, Optic disc pallor, Wide nasal bridge OMIM:617121
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Depressed nasal bridge, Hypertelorism, Hydrocephalus OMIM:602501
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Hypertelorism, Micropenis, Wide nasal bridge, Midface retrusion, Micropht... OMIM:243310
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Retinitis Pigmentosa 7
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retin... OMIM:608133
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Dolichocephaly, Bulbous nose, Astigmatism, Cataract, Wide nasal bridge, Microphthalmia, Frontal b... OMIM:618571
Joubert Syndrome 21
Single naris, Retinopathy, Renal cyst, Anophthalmia, Occipital encephalocele OMIM:615636
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hydronephrosis, Microcornea, Wide nasal bridg... ORPHA:2510
Mulibrey Nanism
Dolichocephaly, Corneal dystrophy, Astigmatism, Wide nasal bridge, Pigmentary retinopathy, Depres... OMIM:253250
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Micropenis, Microcornea, Cataract, Microphthalm... OMIM:614222
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Renal hypoplasia, Optic nerve hypoplasia OMIM:617914
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormal macular morphology, ... ORPHA:897
Nasopalpebral Lipoma-Coloboma Syndrome
Recurrent upper respiratory tract infections, Dolichocephaly, Cataract, Corneal opacity, Micropht... ORPHA:2399
Otodental Syndrome
Microcornea, Cataract, Iris coloboma, Microphthalmia, Lens coloboma, Anteverted nares, Retinal co... ORPHA:2791
Microphthalmia With Linear Skin Defects Syndrome
Abnormal vitreous humor morphology, Abnormal penis morphology, Retinal dysplasia, Epispadias, Ano... ORPHA:2556
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Cataract, Rod-cone dystrophy,... OMIM:312600
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Coloboma, Bilateral microphthalmos, Low hanging columella, Unilateral microphth... OMIM:619318
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microcornea, Cataract, Aplasia/Hypoplasia involving the nose, Iris colobom... ORPHA:3301
Curry-Jones Syndrome
Craniosynostosis, Hypertelorism, Hypopigmented skin patches, Microphthalmia, Optic disc coloboma,... ORPHA:1553
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Ectopia lentis, Convex nasal ridge, Microphthalmia, Large beaked nose, Iris atrophy, P... OMIM:601552
Developmental Delay With Variable Neurologic And Brain Abnormalities
Astigmatism, Cataract, Microphthalmia, Wide nose, Anteverted nares OMIM:619694
Vici Syndrome
Hypotelorism, Renal tubular acidosis, Abnormal macular morphology, Ureteral atresia, Abnormality ... ORPHA:1493
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with abnormal fundus, ... ORPHA:215
Cockayne Syndrome Type 1
Deeply set eye, Anophthalmia, Proteinuria, Cataract, Conjunctivitis, Pigmentary retinopathy, Rena... ORPHA:90321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Deeply set eye, Cataract, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vas... OMIM:614643
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia, Frontal bossing, Hydroureter, Short nose ORPHA:2547
Nasopalpebral Lipoma-Coloboma Syndrome
Dolichocephaly, Wide nasal bridge, Microphthalmia, Depressed nasal bridge, Hypertelorism, Conjunc... OMIM:167730
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Cataract, Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Co... ORPHA:370959
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Aqueductal stenosis, Hydrocephalus ORPHA:2182
Pallister-Hall Syndrome
Ectopic kidney, Renal cyst, Micropenis, Hydronephrosis, Renal hypoplasia, Holoprosencephaly, Choa... OMIM:146510
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Vacterl With Hydrocephalus
Anophthalmia, Abnormality of the optic nerve, Microcornea, Microphthalmia, Spina bifida, Hydrocep... ORPHA:3412
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:601718
Sjögren-Larsson Syndrome
Retinopathy, Abnormality of retinal pigmentation, Macular degeneration, Generalized hyperpigmenta... ORPHA:816
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Holoprosencephaly, Wide nasal bridge, Midface retrusion, Hydrocephal... OMIM:612651
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Frontal bossing, Shallow orbits, Coloboma OMIM:617306
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinopathy, Anophthalmia, Chorioretinal dysplasia, Abnormality of the optic nerve, Abnormality o... ORPHA:2526
Pierson Syndrome
Diffuse mesangial sclerosis, Nephrotic syndrome, Hypoplasia of the ciliary body, Retinal hemorrha... OMIM:609049
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Hypotelorism, Skull asymmetry, Lobar holoprosencephaly, Wide nasal bridge, Brachycephaly, Hyperte... OMIM:614701
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, Optic disc coloboma, I... OMIM:169550
Seckel Syndrome 2
Ectopic kidney, Microphthalmia, Hypospadias, Prominent nose, Few cafe-au-lait spots OMIM:606744
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Fanconi Anemia, Complementation Group L
Micropenis, Renal hypoplasia, Wide nasal bridge, Microphthalmia, Depressed nasal bridge, Hydrocep... OMIM:614083
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Hypotelorism, Craniosynostosis, Prominent metopic ridge, Lobar holopro... ORPHA:468631
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Optic atrophy, Iris coloboma, Astigmatism, Peters anomaly, Choanal atresi... ORPHA:494344
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Bartsocas-Papas Syndrome 2
Prominent occiput, Popliteal pterygium, Corneal opacity, Antecubital pterygium, Microphthalmia, A... OMIM:619339
Mosaic Variegated Aneuploidy Syndrome
Abnormality of skin pigmentation, Depressed nasal ridge, Multiple cafe-au-lait spots, Cataract, C... ORPHA:1052
Mmep Syndrome
Microphthalmia ORPHA:3434
Baraitser-Winter Syndrome 2
Microphthalmia, Coloboma, Trigonocephaly, Hypertelorism OMIM:614583
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:600852
Matthew-Wood Syndrome
Anophthalmia, Horseshoe kidney, Renal hypoplasia, Microphthalmia, Vesicoureteral reflux ORPHA:2470
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Deeply set eye, Chorioretinal coloboma, Bilateral microphthalmos, Cervical spina bifida OMIM:600122
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Cranium bifidum occultum, Microcornea, Cataract, Iris coloboma, Midfac... OMIM:229400
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormality of the nose, Heterochromia iridis, Abnormal reti... ORPHA:1390
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cockayne Syndrome Type 2
Hypermelanotic macule, Anophthalmia, Developmental cataract, Conjunctivitis ORPHA:90322
Retinitis Pigmentosa 6
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy OMIM:312612
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia, Coloboma, Prominent nasal bridge, Hypertelorism OMIM:618652
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Kapur-Toriello Syndrome
Retinal coloboma, Bulbous nose, Hypoplasia of penis, Microphthalmia, Iris coloboma ORPHA:2328
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Re... OMIM:618144
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Depressed nasal ridge, Hyperpigmented nevi, Optic nerve hypoplasia, Choa... OMIM:607597
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Isolated Exencephaly
Depressed nasal bridge, Abnormality of the calvaria, Hypoplasia of the frontal bone, Holoprosence... ORPHA:563612
Refsum Disease
Retinopathy, Anosmia, Abnormality of retinal pigmentation, Cataract, Microphthalmia, Renal insuff... ORPHA:773
Multiple Sulfatase Deficiency
Hydrocephalus, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Depressed nasal br... ORPHA:585
Retinitis Pigmentosa 43
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Joubert Syndrome 2
Chorioretinal coloboma, Nephronophthisis, Renal cyst, Hypertelorism, Dolichocephaly, Microphthalm... OMIM:608091
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Underdeveloped nasal alae, Renal hypoplasia, Optic nerve aplasia, Brachycephaly, Hy... ORPHA:264200
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Anterior Segment Dysgenesis 8
Uveal ectropion, Persistent pupillary membrane, Hypoplasia of the iris, Iridodonesis, Cataract, O... OMIM:617319
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Lenticonus, Retinal atrophy, Pigmentary retinopathy,... ORPHA:52427
Oculofaciocardiodental Syndrome
Microcornea, Cataract, Retinal detachment, Iris coloboma, Microphthalmia, Prominent nasal bridge,... ORPHA:2712
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Hypopigmentation of hair, Hypertelorism, Sclerocornea, Hydronephrosis, Iris... ORPHA:818
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine OMIM:266130
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Microph... ORPHA:1806
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Microcornea, Cataract ORPHA:48431
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Fanconi Anemia, Complementation Group G
Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
Stevenson-Carey Syndrome
Underdeveloped nasal alae, Microphthalmia, Coloboma, Brachycephaly, Anteverted nares, Prominent n... OMIM:611961
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Microphthalmia, Frontal bossing, Hydrocephalus, Short nose OMIM:300863
Arthrogryposis, Distal, Type 5
Deeply set eye, Keratoglobus, Abnormality of retinal pigmentation, Astigmatism, Keratoconus OMIM:108145
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation, Aqueductal stenosis, Craniosynostosis, Turricephaly ORPHA:1496
Bardet-Biedl Syndrome 9
Retinal degeneration, Astigmatism, Cataract, Rod-cone dystrophy, Renal insufficiency, Bone spicul... OMIM:615986
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation, Calvarial skull defect ORPHA:1117
Kapur-Toriello Syndrome
Bulbous nose, Micropenis, Iris coloboma, Cataract, Microphthalmia, Low hanging columella, Retinal... OMIM:244300
3Q29 Microduplication Syndrome
Biparietal narrowing, Craniosynostosis, Sclerocornea, Cataract, Wide nasal bridge, Microphthalmia... ORPHA:251038
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Sclerocornea, Cataract, Corneal opacity, Hypoplasia of penis, Micropht... ORPHA:284160
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Corneal opacity, Lens subluxation, Retinal... ORPHA:85167
Fraser Syndrome 1
Anophthalmia, Encephalocele, Myelomeningocele, Cleft ala nasi, Underdeveloped nasal alae, Micrope... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract, Microphthalmia, Hydrocephalus, Retinal dystrophy OMIM:616538
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Charge Syndrome
Chorioretinal coloboma, Anosmia, Horseshoe kidney, Anophthalmia, Hypertelorism, Micropenis, Hydro... ORPHA:138
Mucolipidosis Type Iv
Biparietal narrowing, Retinopathy, Abnormality of retinal pigmentation, Corneal opacity, Abnormal... ORPHA:578
Ring Chromosome 10 Syndrome
Microphthalmia, Frontal bossing, Hypertelorism, Wide nasal bridge ORPHA:1438
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Rodrigues Blindness
Microphthalmia, Narrow nasal bridge, Sclerocornea, Microcornea OMIM:268320
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Peroxisome Biogenesis Disorder 2A (Zellweger)
Dolichocephaly, Cataract, Optic nerve dysplasia, Polycystic kidney dysplasia, Pigmentary retinopa... OMIM:214110
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Urinary incontinence, Bone s... OMIM:609033
Microphthalmia, Syndromic 9
Anophthalmia, Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Wide nasal bridge, Pelvic kidne... OMIM:601186
Pancreatic Agenesis-Holoprosencephaly Syndrome
Prominent occiput, Hypotelorism, Semilobar holoprosencephaly, Abnormality of the external nose, H... ORPHA:556955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Retinal dysplasia, Reti... OMIM:236670
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Linear hyperpigmentation, Hypoplasia of the iris, Sclerocor... OMIM:613001
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology ORPHA:3019
Agnathia-Otocephaly Complex
Wide nose, Holoprosencephaly OMIM:202650
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule... OMIM:612095
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Narrow nasal ridge, Nephrotic syndrome, Optic atrophy, Proteinuria, ... OMIM:251300
Microphthalmia, Syndromic 8
Microphthalmia, Microcornea OMIM:601349
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Bone spicule pigmentation... OMIM:600132
Retinitis Pigmentosa 1
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:180100
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Hypertelorism, Renal hypoplasia, Anencephaly, Hydrocephalus, Neonatal dea... OMIM:269860
Nance-Horan Syndrome
Developmental cataract, Microcornea, Microphthalmia, Prominent nasal bridge, Posterior Y-sutural ... OMIM:302350
Heart And Brain Malformation Syndrome
Prominent occiput, Hypertelorism, Prominent metopic ridge, Wide nasal bridge, Microphthalmia, Dep... OMIM:616920
Laurence-Moon Syndrome
Micropenis, Pigmentary retinopathy OMIM:245800
Frontorhiny
Cranium bifidum occultum, Basal encephalocele, Cataract, Microphthalmia, Hypertelorism, Midline n... ORPHA:391474
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Joubert Syndrome 3
Stage 5 chronic kidney disease, Wide nasal bridge, Pigmentary retinopathy, Retinal dystrophy, Nep... OMIM:608629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Hypoplasia of the retina, Retinal degeneration, Opacification of the corneal strom... OMIM:253280
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Micropenis, Sclerocornea, Cataract, Iris coloboma, Microphthalmia, Pigmentary retinopath... OMIM:309801
Hartsfield Syndrome
Hypotelorism, Craniosynostosis, Micropenis, Lobar holoprosencephaly, Hypoplasia of the frontal bo... OMIM:615465
Fanconi Anemia, Complementation Group J
Microphthalmia, Multiple cafe-au-lait spots OMIM:609054
Jeune Syndrome
Abnormality of retinal pigmentation, Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Midface retrusion, P... OMIM:612582
Arachnoid Cyst
Urinary bladder sphincter dysfunction, Mydriasis, Hydrocephalus, Urinary incontinence, Holoprosen... ORPHA:2356
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Renal hypoplasia, Pigmentary retinopathy OMIM:600151
Focal Dermal Hypoplasia
Chorioretinal coloboma, Broad nasal tip, Anophthalmia, Horseshoe kidney, Bifid ureter, Ureteral d... OMIM:305600
Duane-Radial Ray Syndrome
Horseshoe kidney, Crossed fused renal ectopia, Hydronephrosis, Renal hypoplasia, Choanal stenosis... OMIM:607323
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Hypertelorism, Microphthalmia, Wide anterior fontanel, Anteverted nares OMIM:619135
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Cataract, Optic nerve dysplasia, Pigmentary retinopathy, L... OMIM:614866
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Ectopic kidney, Iris coloboma, Microphthalmia, Hydrocephalus, Hypertelori... ORPHA:268249
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Anteverted nares, Optic atrophy, Short nose OMIM:234050
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Deeply set eye, Peters anomaly OMIM:614526
Cat Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Hypertelorism, Iris coloboma OMIM:115470
Meckel Syndrome, Type 2
Renal cyst, Anencephaly, Microphthalmia, Meningocele, Encephalocele OMIM:603194
Sandestig-Stefanova Syndrome
Developmental cataract, Prominent metopic ridge, Convex nasal ridge, Wide nasal bridge, Microphth... OMIM:618804
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Microphthalmia, Frontal bossing, Hydrocephalus, Short nose ORPHA:163966
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Proteinuria, Corneal crystals, Retinal pigment epithelial mottling, Stage 5 chronic ... OMIM:219900
Zika Virus Disease
Absent foveal reflex, Iris coloboma, Lens subluxation, Optic disc hypoplasia, Retinal pigment epi... ORPHA:448237
Genitourinary And/Or Brain Malformation Syndrome
Hypertelorism, Chordee, Micropenis, Acrania, Holoprosencephaly, Astigmatism, Aplasia of the nasal... OMIM:618820
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Trichothiodystrophy 3, Photosensitive
Hypotelorism, Developmental cataract, Cataract, Microphthalmia, Trigonocephaly OMIM:616395
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Fanconi Anemia, Complementation Group S
Microphthalmia, Hypertelorism, Anteverted nares, Prominent nasal bridge OMIM:617883
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Retinal degeneration, Anosmia, Micropenis, Polyuria, ... OMIM:615994
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract ORPHA:3085
Chromosome 13Q33-Q34 Deletion Syndrome
Deeply set eye, Trigonocephaly, Encephalocele, Hypertelorism, Anencephaly, Wide nasal bridge, Cho... OMIM:619148
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis, Abnormal anterior chamber morphology ORPHA:93323
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Bulbous nose, Wide nasal bridge, Ocular anterior segment dysgenesis, Midface retru... ORPHA:369891
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Pigmentary retinopathy, Optic disc pallor, Cone/cone-rod dystrophy, Atten... OMIM:604116
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, Microphthalmia, Hypotelorism OMIM:619053
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Plagiocephaly, Anophthalmia, Sclerocornea, Renal hypoplasia, Microco... OMIM:607932
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia, Pigmentary retinopathy, Freckling, Optic atrophy OMIM:610651
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Underdeveloped nasal alae, Persistent pupillary membrane, Microcornea, Narrow nose, Ca... OMIM:257850
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Brachycephaly ORPHA:1173
Microphthalmia, Lenz Type
Chorioretinal coloboma, Hydronephrosis, Microcornea, Cataract, Iris coloboma, Microphthalmia, Hyd... ORPHA:568
Microphthalmia, Syndromic 2
Broad nasal tip, Anophthalmia, Developmental cataract, Phthisis bulbi, Microcornea, Iris coloboma... OMIM:300166
Linear Nevus Sebaceus Syndrome
Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthalmia, Frontal bossing, Melanocy... ORPHA:2612
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Anophthalmia, Cystic renal dysplasia, Horseshoe kidney, Pelvic kidney,... OMIM:156810
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Meckel Syndrome, Type 4
Renal cyst, Anencephaly, Microphthalmia, Hydrocephalus, Meningocele, Encephalocele OMIM:611134
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal cyst, Hypertelorism, Micropenis, Hydronephrosis, Renal hypoplasi... OMIM:270400
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Skin Creases, Congenital Symmetric Circumferential, 2
Microcornea, Microphthalmia, Depressed nasal bridge, Hypertelorism, Hypospadias OMIM:616734
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Wormian bones, Dolichocephaly, Underdeveloped nasal alae, Narrow nose, Ca... OMIM:234100
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal atrophy, Retinal pigme... OMIM:145350
Juvenile Paget Disease
Cranial hyperostosis, Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy ORPHA:2801
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Cataract, Thick nasal alae, Wide nasal bridge, Microphthalmia, Ectopia pupillae, Opt... OMIM:618727
Ring Chromosome 7 Syndrome
Plagiocephaly, Hypotelorism, Abnormality of skin pigmentation, Hyperpigmented nevi, Holoprosencep... ORPHA:1449
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Biparietal narrowing, Abnormality of retinal pigmentation, Wide nasal bridge, Anteverted nares, O... ORPHA:2518
Charge Syndrome
Anosmia, Horseshoe kidney, Anophthalmia, Unilateral microphthalmos, Hypertelorism, Micropenis, Hy... OMIM:214800
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Microcornea, Cataract, Microphthalmia, Frontal bossing, Depressed nasal bridge, H... ORPHA:35173
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria ORPHA:2714
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Anophthalmia, Horseshoe kidney, Crossed fused renal ectopia, Multicystic kidney dy... ORPHA:2538
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcaps... OMIM:615233
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Micropenis, Cataract, Aplasia of the nose, Choanal atresia, Midface retrusion, Microphth... OMIM:603457
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Functional abnormality of the bladder... ORPHA:100996
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Pigmentary retinopathy ORPHA:370968
17Q12 Microduplication Syndrome
Microphthalmia, Deeply set eye ORPHA:261272
Fraser Syndrome
Anophthalmia, Encephalocele, Myelomeningocele, Underdeveloped nasal alae, Cleft ala nasi, Renal h... ORPHA:2052
Microtia-Anotia
Holoprosencephaly OMIM:600674
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Developmental cataract, Optic atrophy OMIM:618651
Gracile Bone Dysplasia
Micropenis, Microphthalmia, Aniridia, Hydrocephalus OMIM:602361
Acro-Renal-Ocular Syndrome
Chorioretinal coloboma, Bladder diverticulum, Horseshoe kidney, Hypertelorism, Crossed fused rena... ORPHA:959
Multiple Benign Circumferential Skin Creases On Limbs
Retinopathy, Microcornea, Microphthalmia, Irregular hyperpigmentation, Hypospadias ORPHA:2505
Cerebrooculofacioskeletal Syndrome 4
Deeply set eye, Abnormal retinal morphology, Premature closure of fontanelles, Prominent nasal br... OMIM:610758
1Q21.1 Microdeletion Syndrome
Deeply set eye, Bulbous nose, Hydronephrosis, Cataract, Iris coloboma, Wide nasal bridge, Microph... ORPHA:250989
Leber Congenital Amaurosis 15
Retinopathy, Retinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Retinal arteriolar constrict... OMIM:605549
Pelvis-Shoulder Dysplasia
Hydronephrosis, Microcornea, Hydranencephaly, Iris coloboma, Spina bifida, Hydrocephalus, Bilater... ORPHA:2839
Retinitis Pigmentosa 51
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of... OMIM:613464
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood... OMIM:300578
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Depressed nasal bridge, Brachycephaly, Hypertelorism OMIM:156610
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi... ORPHA:2481
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Deeply set eye, Pigmentary retinopathy OMIM:619059
Mosaic Trisomy 9
Prominent occiput, Biparietal narrowing, Hypotelorism, Horseshoe kidney, Bulbous nose, Hydronephr... ORPHA:99776
Acrofrontofacionasal Dysostosis 1
Wide nasal bridge, Iris atrophy, Microphthalmia, Brachycephaly, Hypertelorism, Optic atrophy OMIM:201180
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Proteinuria, Abnormality of retinal pigmentation, Cataract, Renal ins... ORPHA:2715
Moebius Syndrome
Micropenis, Microphthalmia, Depressed nasal bridge, Abnormal nasopharynx morphology, Hypertelorism OMIM:157900
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Astigmatism, Optic nerve hypoplasia, Microphthalmia, Cafe-au-... OMIM:609053
Cockayne Syndrome Type 3
Unilateral renal agenesis, Lentiglobus, Corneal ulceration, Hydronephrosis, Narrow nose, Neurogen... ORPHA:90324
Orofaciodigital Syndrome Xiv
Trigonocephaly, Micropenis, Holoprosencephaly, Occipital encephalocele, Retinitis, Epispadias, Op... OMIM:615948
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Hypertelorism, Underdeveloped nasal alae, Bulbous nose, Corneal opacity, Microphthalmia, Prominen... ORPHA:364577
Microtia
Holoprosencephaly ORPHA:83463
Galloway-Mowat Syndrome 3
Deeply set eye, Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Hypertelor... OMIM:617729
Martsolf Syndrome 1
Broad nasal tip, Developmental cataract, Micropenis, Microphthalmia, Depressed nasal bridge, Brac... OMIM:212720
Branchiooculofacial Syndrome
Premature graying of hair, Broad nasal tip, Renal cyst, Anophthalmia, Dolichocephaly, Retinal col... OMIM:113620
Marden-Walker Syndrome
Hypertelorism, Micropenis, Renal hypoplasia, Microphthalmia, Wide anterior fontanel, Anteverted n... OMIM:248700
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Acute Zonal Occult Outer Retinopathy
Vitritis, Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial ... ORPHA:284454
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Broad nasal tip, Fair hair, Bladder diverticulum, Micropenis, Hydron... OMIM:129900
Khan-Khan-Katsanis Syndrome
Corneal scarring, Renal hypoplasia, Hydronephrosis, Peters anomaly, Pigmentary retinopathy, Front... OMIM:618460
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Renal hypoplasia, Lens coloboma OMIM:618914
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy ORPHA:255241
Desmoid Tumor
Abnormality of retinal pigmentation, Hydronephrosis ORPHA:873
Subaortic Stenosis--Short Stature Syndrome
Microcornea, Wide nasal bridge, Midface retrusion, Microphthalmia, Opacification of the corneal s... OMIM:271960
Meckel Syndrome, Type 5
Microphthalmia, Anencephaly, Occipital encephalocele OMIM:611561
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism, Wide nasal bridge ORPHA:1352
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of re... OMIM:613756
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Deeply set eye, Hypotelorism, Renal cyst, Bulbous nose, Optic atrophy, Multiple cafe-au-lait spot... OMIM:616975
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Horseshoe kidney, Cataract, Microphthalmia, Prominent nasal bri... ORPHA:65286
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Abnormality of retinal pigmentation, Cataract, Thick nasal alae, Front... ORPHA:192
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Curry-Jones Syndrome
Microphthalmia, Coloboma, Craniosynostosis OMIM:601707
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Phthisis bulbi, Cataract, Absent anterior chamber of the eye, Microphthalmia, ... OMIM:259770
Peroxisome Biogenesis Disorder 1A (Zellweger)
Anteverted nares, Renal cortical microcysts, Hypertelorism, Hydronephrosis, Cataract, Pigmentary ... OMIM:214100
Focal Dermal Hypoplasia
Chorioretinal coloboma, Abnormality of skin pigmentation, Horseshoe kidney, Hypoplasia of the iri... ORPHA:2092
Iniencephaly
Myelomeningocele, Anencephaly, Spinal dysraphism, Spina bifida, Hydrocephalus, Holoprosencephaly,... ORPHA:63259
Retinitis Pigmentosa 45
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Macular degeneration OMIM:613767
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Anteverted nares ORPHA:3191
Teebi-Shaltout Syndrome
Broad nasal tip, Ureteral stenosis, Horseshoe kidney, Underdeveloped nasal alae, Hydronephrosis, ... OMIM:272950
Cockayne Syndrome B
Normal pressure hydrocephalus, Deeply set eye, Developmental cataract, Abnormality of skin pigmen...