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Gene: Fat1 MGI:109168

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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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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
Bilateral microphthalmos, Iris coloboma, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Anophthalmia OMIM:616428
Solitary Median Maxillary Central Incisor
Cyclopia, Choanal atresia, Holoprosencephaly, Pyriform aperture stenosis, Microphthalmia, Midnasa... OMIM:147250
Holoprosencephaly 5
Syntelencephaly, Hydrocephalus, Trigonocephaly, Lobar holoprosencephaly, Semilobar holoprosenceph... OMIM:609637
Holoprosencephaly 3
Hydronephrosis, Cyclopia, Holoprosencephaly, Short columella, Proboscis, Hypotelorism, Midface re... OMIM:142945
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Microphthalmia, Retinal dysplasia, Coloboma, Developmenta... ORPHA:324416
Proboscis Lateralis
Cataract, Cyclopia, Iris coloboma, Duplication of renal pelvis, Unilateral renal agenesis, Holopr... ORPHA:141099
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Nanophthalmos
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Cerebrooculonasal Syndrome
Encephalocele, Craniosynostosis, Iris coloboma, Brachycephaly, Hydrocephalus, Prominent nasal bri... OMIM:605627
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Holoprosencephaly 2
Cyclopia, Iris coloboma, Semilobar holoprosencephaly, Alobar holoprosencephaly, Microphthalmia, H... OMIM:157170
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pi... OMIM:611040
Microphthalmia, Isolated 8
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... OMIM:615113
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Hematuria OMIM:120433
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Renal insufficiency, Holoprosencephaly, Proptosis, Hypertelorism ORPHA:2165
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Microphthalmia, Posterior embryotoxon, Chorioretinal... ORPHA:1473
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Optic nerve misrouting, Microphthalmia, Foveal hyperpigment... OMIM:609218
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Pyknoachondrogenesis
Stillbirth OMIM:265880
Acalvaria
Calvarial skull defect, Spina bifida, Hydrocephalus, Holoprosencephaly, Hypertelorism ORPHA:945
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Microphthalmia, Proptosis, Prominent nose, Retinopa... OMIM:616171
Distal Deletion 13Q
Encephalocele, Iris coloboma, Holoprosencephaly, Anencephaly, Optic atrophy, Aplasia/Hypoplasia a... ORPHA:1590
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Microphthalmia, Abnorma... OMIM:251270
Trisomy 18
Cataract, Hydronephrosis, Cyclopia, Iris coloboma, Spina bifida, Short nose, Choanal atresia, Hol... ORPHA:3380
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Deeply set ... OMIM:305390
Microphthalmia, Syndromic 12
Broad nasal tip, Microphthalmia, Neonatal death, Wide nasal bridge, Anophthalmia OMIM:615524
Holoprosencephaly 1
Cyclopia, Micropenis, Alobar holoprosencephaly, Microphthalmia, Proboscis, Midface retrusion, Hyp... OMIM:236100
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Abnormal calvaria morphology, Corneal opacity, Microphthalmia ORPHA:2432
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Lobar holoprosencephaly, Microphthalmia, Depressed nasal bridge,... ORPHA:2117
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Microform Holoprosencephaly
Cyclopia, Iris coloboma, Short nose, Choanal atresia, Holoprosencephaly, Midnasal stenosis, Hypop... ORPHA:280200
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Cyclopia, Absent nares, Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Hypoplasia of p... ORPHA:990
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hydrocephalus, Microphthalmia, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... ORPHA:97341
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Holoprosencephaly
Choanal atresia, Hyposmia, Hypotelorism, Anosmia, Depressed nasal tip, Proteinuria, Iris coloboma... ORPHA:2162
Microphthalmia, Syndromic 5
Cataract, Micropenis, Microphthalmia, Optic nerve hypoplasia, Coloboma, Anophthalmia, Microcornea... OMIM:610125
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Choroideremia
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... OMIM:303100
Anencephaly 2
Bifid nose, Anophthalmia, Anencephaly OMIM:619452
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Microphthalmia, Retinal degeneration, Shallow ante... OMIM:267760
Meckel Syndrome, Type 8
Encephalocele, Polycystic kidney dysplasia, Enlarged kidney, Short nose, Occipital encephalocele,... OMIM:613885
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Sclerocornea, Anophthalmia, Micr... ORPHA:139471
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Hydrocephalus, Holoprosencephaly, Microphthalmia, Hypoplasia of penis, Sclerocorne... ORPHA:77298
Holoprosencephaly 14
Cyclopia, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Alobar holoprosencephaly, Probos... OMIM:619895
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... ORPHA:231736
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pseudotrisomy 13 Syndrome
Encephalocele, Cyclopia, Micropenis, Hydrocephalus, Holoprosencephaly, Microphthalmia, Hypotelori... OMIM:264480
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Hydrocephalus OMIM:614830
Anophthalmia Plus Syndrome
Abnormal nasal morphology, Iris coloboma, Spina bifida, Choanal atresia, Anophthalmia, Hypertelorism ORPHA:1104
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Microphthalmia OMIM:613517
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Brachycephaly, Microcornea, Microphthalmia ORPHA:2528
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Walker-Warburg Syndrome
Cataract, Chorioretinal dysplasia, Iris coloboma, Hydrocephalus, Retinal detachment, Microphthalm... ORPHA:899
Trisomy 13
Cataract, Hydronephrosis, Calvarial skull defect, Iris coloboma, Abnormal retinal vascular morpho... ORPHA:3378
Holoprosencephaly 7
Shallow orbits, Parietal bossing, Hypotelorism, Hypoplastic nasal septum, Cranial asymmetry, Depr... OMIM:610828
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... ORPHA:891
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Plagiocephaly, Brachycephaly, Holoprosencephaly, Abnormality of retinal pigment... ORPHA:2163
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Microphthalmia, B... OMIM:212550
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cyclopia, Absent nares, Hydrocephalus, Holoprosencephaly, Microphthalmia, Hypoplas... ORPHA:2166
Cofs Syndrome
Cataract, Abnormal nasal morphology, Microphthalmia, Abnormality of retinal pigmentation, Wide na... ORPHA:1466
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Hypotelorism, Ar... OMIM:218670
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, Micropenis, Brachycephaly, Alobar holoprosencephaly, Dolichocephaly, Hypertelorism OMIM:615433
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:300915
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Leber Congenital Amaurosis 8
Cataract, Deeply set eye, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris... OMIM:613835
Triploidy
Cataract, Iris coloboma, Hydrocephalus, Meningocele, Holoprosencephaly, Hypoplasia of penis, Hypo... ORPHA:3376
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Fr... ORPHA:1528
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... ORPHA:137902
Frontofacionasal Dysplasia
Brushfield spots, Cataract, Encephalocele, Iris coloboma, Brachycephaly, Bifid nasal tip, Short n... ORPHA:1791
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Cat-Eye Syndrome
Hydronephrosis, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Hypertelorism ORPHA:195
Distal Monosomy 7Q36
Abnormal calvaria morphology, Holoprosencephaly, Hypoplasia of penis, Bulbous nose, Optic atrophy ORPHA:1636
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Anophthalmia, Microphthalmia, Orbital encephalocele OMIM:164180
1Q41Q42 Microdeletion Syndrome
Broad nasal tip, Deeply set eye, Underdeveloped nasal alae, Holoprosencephaly, Hypotelorism, Abno... ORPHA:250999
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Muscle-Eye-Brain Disease
Cataract, Hydrocephalus, Meningocele, Holoprosencephaly, Optic atrophy ORPHA:588
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Microphthalmia, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis OMIM:610023
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Uraciluria, Microphthalmia, Coloboma OMIM:274270
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Retinitis Pigmentosa 4
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... OMIM:613731
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Retinitis Pigmentosa 84
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... OMIM:618220
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... OMIM:614500
Chromosome 1Q41-Q42 Deletion Syndrome
Broad nasal tip, Trigonocephaly, Deeply set eye, Holoprosencephaly, Microphthalmia, Anteverted na... OMIM:612530
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ectopic kidney, Optic disc pallor, Microphthalmia, Neonatal death, Cystic renal dysplasia OMIM:613730
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma, Microphthalmia ORPHA:363741
Gombo Syndrome
Microphthalmia OMIM:233270
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Microphthalmia, Coloboma ORPHA:141333
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
2Q24 Microdeletion Syndrome
Cataract, Microphthalmia, Abnormality iris morphology, Hypertelorism, Coloboma ORPHA:1617
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Iris coloboma, Holoprosencephaly, Microphthalmia, Hypotelorism, Aplasia of the nose ORPHA:3186
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Ring Chromosome 14 Syndrome
Flat occiput, Pigmentary retinopathy, Anteverted nares, Dolichocephaly, Depressed nasal ridge, De... OMIM:616606
Holoprosencephaly 11
Holoprosencephaly, Hypotelorism, Proptosis OMIM:614226
Homocarnosinosis
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Nephronophthisis
Renal insufficiency, Abnormality of retinal pigmentation ORPHA:655
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Underdeveloped nasal alae, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:616108
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... OMIM:193220
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Broad nasal tip, Depressed nasal bridge, Astigmatism, Flat occ... OMIM:152950
Thanatophoric Dysplasia Type 2
Encephalocele, Cloverleaf skull, Hydrocephalus, Holoprosencephaly, Proptosis, Frontal bossing, De... ORPHA:93274
Temtamy Syndrome
Iris coloboma, Microphthalmia, Dolichocephaly, Chorioretinal coloboma, Convex nasal ridge, Hypert... ORPHA:1777
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Lambotte Syndrome
Ocular anterior segment dysgenesis, Convex nasal ridge, Semilobar holoprosencephaly, Hypertelorism OMIM:245552
16P13.11 Microdeletion Syndrome
Cyclopia, Short nose, Holoprosencephaly, Anteverted nares, Depressed nasal bridge ORPHA:261236
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Cerebrooculonasal Syndrome
Brachycephaly, Hypoplasia of penis, Anophthalmia, Abnormal nostril morphology, Hypertelorism ORPHA:66625
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... OMIM:180104
Jacobsen Syndrome
Depressed nasal bridge, Iris coloboma, Hydrocephalus, Trigonocephaly, Flat occiput, Short nose, H... OMIM:147791
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Prominent nasal bridge, Anteverted nares, Bulbous nose, Anophthalmia ORPHA:411986
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling, Short nose, Methylmalonic aciduria, Microphthalmia... OMIM:614105
Peroxisomal Acyl-Coa Oxidase Deficiency
Depressed nasal bridge, Brachycephaly, Pigmentary retinopathy, Wide nasal bridge, Frontal bossing... OMIM:264470
Stromme Syndrome
Cataract, Hydronephrosis, Retinal vascular tortuosity, Iris coloboma, Prominent nasal bridge, Hyd... OMIM:243605
Bresek Syndrome
Plagiocephaly, Iris coloboma, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Neonatal dea... ORPHA:85284
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Nance-Horan Syndrome
Cataract, Prominent nasal bridge, Retinal detachment, Microphthalmia, Prominent nose, Microcornea ORPHA:627
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... OMIM:204100
Monosomy 18P
Holoprosencephaly, Brachycephaly, Microphthalmia, Wide nasal bridge ORPHA:1598
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anteri... OMIM:604229
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal ... OMIM:120200
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia, Retinal dysplasia, Coloboma OMIM:615665
Steinfeld Syndrome
Iris coloboma, Holoprosencephaly, Microphthalmia, Retinal coloboma, Aplasia of the nose OMIM:184705
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Frontonasal Dysplasia 1
Cataract, Broad nasal tip, Hypertelorism, Bifid nasal tip, Anterior basal encephalocele, Bifid no... OMIM:136760
Hydrolethalus
Hydrocephalus, Deeply set eye, Microphthalmia, Anencephaly, Arrhinencephaly, Abnormality of the s... ORPHA:2189
Monosomy 13Q14
Cataract, Iris coloboma, Prominent nasal bridge, Trigonocephaly, Holoprosencephaly, Microphthalmi... ORPHA:1587
Trisomy 1Q
Hydronephrosis, Hydrocephalus, Congenital megaureter, Wide nose, Hypotelorism, Frontal bossing, D... ORPHA:261344
Holoprosencephaly 13, X-Linked
Cyclopia, Alobar holoprosencephaly, Septo-optic dysplasia, Semilobar holoprosencephaly, Optic ner... OMIM:301043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Hydrocephalus, Retinal detachment, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly, Pro... ORPHA:1908
Senior-Loken Syndrome
Cataract, Stage 5 chronic kidney disease, Chronic kidney disease, Nephronophthisis, Abnormality o... ORPHA:3156
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Iris coloboma, Retinal detachment, Microphthalmia, Macular co... OMIM:615145
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Warburg Micro Syndrome 1
Deeply set eye, Microphthalmia, Anteverted nares, Wide nasal bridge, Developmental cataract, Opti... OMIM:600118
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Microphthalmia, Midface retrusion, Abnorm... ORPHA:1135
Cerebrooculofacioskeletal Syndrome 2
Cataract, Micropenis, Deeply set eye, Microphthalmia, Convex nasal ridge, Developmental cataract,... OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Encephalocele, Hydrocephalus, Retinal detachment, Holoprosencephaly, Microphthalmia, Re... OMIM:253800
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Hypopigmentation of the fundus, Brachycephaly, Oligosacchariduria, Short nose, Retinal ... ORPHA:163649
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Norrie Disease
Cataract, Retinal detachment, Microphthalmia, Optic atrophy, Buphthalmos, Hypoplasia of the iris,... OMIM:310600
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Microphakia, Phthisis bulbi, Rod-cone dystrophy, Ocular anterior segment... OMIM:612109
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Prominent occiput, Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Pierpont Syndrome
Broad nasal tip, Micropenis, Brachycephaly, Deeply set eye, Short nose, Microphthalmia, Wide nose... OMIM:602342
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Meckel Syndrome
Cataract, Encephalocele, Depressed nasal ridge, Hydrocephalus, Lobar holoprosencephaly, Urethral ... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Hydrocephalus, Retinal detachment, Microphthalmia, Corneal opacity, Coloboma OMIM:613153
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Microphthalmia, Sclerocornea, Hypospadias, Anophthalmia, Microcornea,... OMIM:615877
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Retinitis Pigmentosa
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Hypoplasia o... ORPHA:791
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... OMIM:610256
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Hydrocephalus, Microphthalmia, Retinal dystrophy OMIM:613155
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Holoprosencephaly, Hydranencephaly ORPHA:2570
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Depressed nasal bridge, Brachycephaly, Hypertelorism, Microphthalmia, Optic atrophy, Ab... OMIM:612379
Leber Congenital Amaurosis 1
Cataract, Pigmentary retinopathy, Fundus atrophy, Hyperthreoninuria, Keratoconus, Attenuation of ... OMIM:204000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Cloverleaf skull, Platybasia, Microphthalmia, Wide nasal bridge, Frontal bossing, Hyper... ORPHA:93267
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation ORPHA:171844
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Microph... ORPHA:209956
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Chromosome 13Q14 Deletion Syndrome
Iris coloboma, Micropenis, Holoprosencephaly, Microphthalmia, Hypotelorism, Dolichocephaly, Chori... OMIM:613884
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Persistent Hyperplastic Primary Vitreous
Cataract, Tractional retinal detachment, Microphthalmia, Buphthalmos, Persistent pupillary membra... ORPHA:91495
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Leber Congenital Amaurosis
Abnormal optic disc morphology, Cataract, Encephalocele, Abnormality of retinal pigmentation, Ker... ORPHA:65
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Shallow ante... OMIM:221900
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Anterior encephalocele, Coloboma OMIM:601357
Holoprosencephaly 4
Depressed nasal tip, Semilobar holoprosencephaly, Absent nasal septal cartilage, Hypotelorism, De... OMIM:142946
Oculotrichoanal Syndrome
Bifid nasal tip, Anophthalmia, Microphthalmia, Hypertelorism ORPHA:2717
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Bornholm Eye Disease
Astigmatism, Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Pierpont Syndrome
Brachycephaly, Deeply set eye, Wide nasal ridge, Microphthalmia, Microcornea, Hypertelorism ORPHA:487825
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Chorioretina... ORPHA:2196
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia, Chorioretinal coloboma, Convex nasa... OMIM:218340
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Calvarial skull defect, Coronal craniosynostosis, Brachycephaly, Underdeveloped na... ORPHA:228390
Meckel Syndrome 14
Polycystic kidney dysplasia, Occipital encephalocele, Holoprosencephaly, Microphthalmia, Antevert... OMIM:619879
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Megalocornea, Corneal dystrophy, Dolichocephaly, Abnormal vitreous humor morpholog... ORPHA:1101
Xk Aprosencephaly Syndrome
Hypotelorism, Abnormal nostril morphology, Microphthalmia ORPHA:3469
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Microphthalmia, Exudative retinopathy, Exudative vitreoretinopathy, Abnormal ... ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Hydrocephalus, Microphthalmia, Retinal degeneration, Coloboma OMIM:615249
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Absent nares, Hyposmia, Microphthalmia, Hypoplasia of penis, Anosmia, Si... ORPHA:2250
Semilobar Holoprosencephaly
Cyclopia, Hydrocephalus, Proboscis, Hypotelorism, Depressed nasal ridge, Neural tube defect, Sing... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Hydrocephalus, Proboscis, Hypotelorism, Depressed nasal ridge, Neural tube defect, Sing... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Hydrocephalus, Proboscis, Hypotelorism, Depressed nasal ridge, Neural tube defect, Sing... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Hydrocephalus, Proboscis, Hypotelorism, Depressed nasal ridge, Neural tube defect, Sing... ORPHA:93924
Adams-Oliver Syndrome 2
Depressed nasal bridge, Hydrocephalus, Microphthalmia, Bulbous nose, Developmental cataract, Opti... OMIM:614219
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Generalized hypopigmentation, Microphthalmia, Shallow orbits, Frontal bossing, Iris tra... OMIM:617306
Warburg Micro Syndrome 2
Cataract, Micropenis, Brachycephaly, Prominent nasal bridge, Deeply set eye, Short nose, Micropht... OMIM:614225
Frontonasal Dysplasia 3
Brachycephaly, Underdeveloped nasal alae, Microphthalmia, Wide nasal bridge, Hypertelorism OMIM:613456
Retinitis Pigmentosa 76
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... OMIM:617123
Manitoba Oculotrichoanal Syndrome
Broad nasal tip, Bifid nasal tip, Microphthalmia, Anophthalmia, Hypertelorism OMIM:248450
Holoprosencephaly 9
Micropenis, Hydrocephalus, Holoprosencephaly, Microphthalmia, Optic nerve hypoplasia, Midface ret... OMIM:610829
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... OMIM:312600
Lissencephaly 8
Cataract, Optic atrophy, Occipital encephalocele, Microphthalmia OMIM:617255
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinitis Pigmentosa 86
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618613
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
49,Xxxxy Syndrome
Brachycephaly, Holoprosencephaly, Hypoplasia of penis, Wide nose, Depressed nasal ridge, Arrhinen... ORPHA:96264
Ring Chromosome 21 Syndrome
Multiple cafe-au-lait spots, Holoprosencephaly ORPHA:1445
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Micropenis, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, ... OMIM:206900
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Semilobar holoprosencephaly OMIM:601370
Warburg Micro Syndrome 4
Micropenis, Brachycephaly, Prominent nasal bridge, Deeply set eye, Microphthalmia, Anteverted nar... OMIM:615663
Papillorenal Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Macular dege... OMIM:120330
Joubert Syndrome 21
Encephalocele, Renal cyst, Occipital encephalocele, Optic atrophy, Retinopathy, Megalopapilla, Si... OMIM:615636
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hydrocephalus, Microphthalmia, Hypertelorism OMIM:602501
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Spondylo-Ocular Syndrome
Cataract, Iris hypopigmentation, Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the le... ORPHA:85194
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Micro Syndrome
Cataract, Hydronephrosis, Short nose, Microphthalmia, Abnormality of retinal pigmentation, Hypopl... ORPHA:2510
Diprosopus
Anencephaly, Abnormality of the nose, Abnormality of retinal pigmentation ORPHA:1681
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia, Dolichocephaly, Wide nasal bridge, Coloboma, Depressed na... OMIM:167730
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... ORPHA:79435
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor, Wide nasal bridge, Hypertelorism OMIM:617121
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Short nose, Microphthalmia, Dolichocephaly, Wide nasal bridge, Bulbous nos... OMIM:618571
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... OMIM:217300
Otodental Syndrome
Lens coloboma, Cataract, Iris coloboma, Microphthalmia, Anteverted nares, Microcornea, Retinal co... ORPHA:2791
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Coloboma, Low hanging colu... OMIM:619318
Baraitser-Winter Syndrome 1
Micropenis, Iris coloboma, Trigonocephaly, Short nose, Microphthalmia, Anteverted nares, Midface ... OMIM:243310
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Retinal dystrophy, Hydrocephalus, Epispadias, Microphthalmia, Hyperpig... ORPHA:2556
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia, Anteverted nares, Wide nose OMIM:619694
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Optic disc pallor, Microphthalmia, Hypertelorism OMIM:300887
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Depressed nasal tip, Bilateral microphthalmos, Microphthalmia, Wide nose, Conjunctival ... ORPHA:2399
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Cockayne Syndrome Type 1
Cataract, Proteinuria, Hypermelanotic macule, Deeply set eye, Pigmentary retinopathy, Renal insuf... ORPHA:90321
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Hydrocephalus, Megalocornea, Retinal detachment, Occipital encephalocele, Microphthalmi... ORPHA:370959
Joubert Syndrome 37
Hydronephrosis, Micropenis, Deeply set eye, Microphthalmia, Wide nose, Anteverted nares, Wide nas... OMIM:619185
Endocrine-Cerebroosteodysplasia
Depressed nasal tip, Enlarged kidney, Microphallus, Hydrocephalus, Deeply set eye, Holoprosenceph... OMIM:612651
Neonatal Adrenoleukodystrophy
Cataract, Abnormality of retinal pigmentation, Anteverted nares, Dolichocephaly, Wide nasal bridg... ORPHA:44
Tetraamelia-Multiple Malformations Syndrome
Cataract, Iris coloboma, Hydrocephalus, Aplasia/Hypoplasia involving the nose, Septo-optic dyspla... ORPHA:3301
Mulibrey Nanism
Iris coloboma, Astigmatism, Pigmentary retinopathy, Corneal dystrophy, Wide nose, Dolichocephaly,... OMIM:253250
Joubert Syndrome 14
Encephalocele, Prominent nasal bridge, Morning glory anomaly, Hypertelorism, Deeply set eye, Rena... OMIM:614424
Waardenburg-Shah Syndrome
Abnormal macular morphology, Prominent nasal bridge, Premature graying of hair, Underdeveloped na... ORPHA:897
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Chorioretinal dysplasia, Retinal detachment, Retinopathy, Microphthalmia, Abnormality o... ORPHA:2526
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Congenital Rubella Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Corneal opacity, Aplasia/Hypoplasi... ORPHA:290
Curry-Jones Syndrome
Craniosynostosis, Iris coloboma, Hypopigmented skin patches, Microphthalmia, Optic disc coloboma,... ORPHA:1553
Vacterl With Hydrocephalus
Hydrocephalus, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Microphthalmia, Abnormal optic... ORPHA:3412
Pallister-Hall Syndrome
Hydronephrosis, Micropenis, Renal cyst, Ectopic kidney, Hydroureter, Short nose, Choanal atresia,... OMIM:146510
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Microphthalmia With Limb Anomalies
Short nose, Flared nostrils, Microphthalmia, Frontal bossing, Depressed nasal bridge, Anophthalmia OMIM:206920
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Vici Syndrome
Cataract, Depressed nasal tip, Abnormal macular morphology, Ureteral atresia, Abnormality of reti... ORPHA:1493
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Astigmatism, Choanal atresia, Microphthalmia, Anteverted nares, Chorioretinal colo... ORPHA:494344
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop... OMIM:612572
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina OMIM:172870
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Frontonasal Dysplasia 2
Encephalocele, Depressed nasal tip, Calvarial skull defect, Craniosynostosis, Aplasia of the nasa... OMIM:613451
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Pelvis-Shoulder Dysplasia
Iris coloboma, Microphthalmia, Spina bifida occulta, Opacification of the corneal stroma, Optic d... OMIM:169550
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Short nose, Microphthalmia, Hypoplasia of penis, Frontal bossing ORPHA:2547
Seckel Syndrome 2
Ectopic kidney, Microphthalmia, Few cafe-au-lait spots, Prominent nose, Hypospadias OMIM:606744
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Short nose, Lobar holoprosencephaly, Anteverted nares, Hypotelorism, Skull asymmet... OMIM:614701
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Encephalocele, Hydrocephalus, Deeply set eye, Retinal detachment, Optic nerve hypoplasi... OMIM:614643
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Mosaic Variegated Aneuploidy Syndrome
Cataract, Holoprosencephaly, Microphthalmia, Wide nose, Multiple cafe-au-lait spots, Corneal opac... ORPHA:1052
Pierson Syndrome
Cataract, Proteinuria, Retinal vascular tortuosity, Hypopigmentation of the fundus, Diffuse mesan... OMIM:609049
Neurooculocardiogenitourinary Syndrome
Prominent nasal bridge, Microphthalmia, Hypertelorism, Peters anomaly, Coloboma OMIM:618652
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Craniosynostosis, Bilateral microphthalmos, Prominent nasal bridge, Microphallus, Unilateral rena... ORPHA:468631
Retinitis Pigmentosa 28
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:606068
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Generali... ORPHA:816
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi... ORPHA:448237
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Matthew-Wood Syndrome
Horseshoe kidney, Microphthalmia, Vesicoureteral reflux, Anophthalmia, Renal hypoplasia ORPHA:2470
Cockayne Syndrome Type 2
Hypermelanotic macule, Conjunctivitis, Anophthalmia, Developmental cataract ORPHA:90322
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Brachyturricephaly, Choanal atresia, Optic nerve hypoplasia, Ethmoidal ... OMIM:607597
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia, Hypoplasia of penis, Bulbous nose, Retinal coloboma ORPHA:2328
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Frontofacionasal Dysplasia
Cataract, Midline defect of the nose, Iris coloboma, Brachycephaly, Short nose, Hypoplasia of the... OMIM:229400
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of the nose, Heterochromia iridis, Abnormality ... ORPHA:1390
Baraitser-Winter Syndrome 2
Trigonocephaly, Coloboma, Microphthalmia, Hypertelorism OMIM:614583
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Mmep Syndrome
Microphthalmia ORPHA:3434
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Warburg Micro Syndrome 3
Cataract, Micropenis, Brachycephaly, Short nose, Microphthalmia, Shallow anterior chamber, Develo... OMIM:614222
Isolated Exencephaly
Abnormal calvaria morphology, Hypoplasia of the frontal bone, Holoprosencephaly, Proptosis, Depre... ORPHA:563612
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Aplasia Cutis-Myopia Syndrome
Calvarial skull defect, Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613810
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria OMIM:257910
Smith-Lemli-Opitz Syndrome
Cataract, Hydronephrosis, Biparietal narrowing, Iris coloboma, Ureteropelvic junction obstruction... ORPHA:818
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Brachycephaly, Underdeveloped nasal alae, Proptosis, Anophthalmia, Renal hyp... ORPHA:264200
Bartsocas-Papas Syndrome 2
Axillary pterygium, Microphthalmia, Prominent occiput, Popliteal pterygium, Corneal opacity, Ante... OMIM:619339
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... OMIM:618697
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Iris coloboma, Prominent nasal bridge, Bifid nasal tip, Retinal detachm... ORPHA:2712
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... ORPHA:79432
Refsum Disease
Cataract, Renal insufficiency, Microphthalmia, Abnormality of retinal pigmentation, Anosmia, Reti... ORPHA:773
Agnathia-Otocephaly Complex
Holoprosencephaly, Wide nose OMIM:202650
Retinitis Pigmentosa 25
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:602772
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Semilobar holoprosencephaly, Abnormal external nose morphology, Prominent occi... ORPHA:556955
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... ORPHA:52427
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Microphthalmia, Sclerocornea, Narrow nas... ORPHA:1806
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Multiple Sulfatase Deficiency
Cataract, Mucopolysacchariduria, Depressed nasal bridge, Hydrocephalus, Abnormality of retinal pi... ORPHA:585
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:180100
Hartsfield Syndrome
Craniosynostosis, Micropenis, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holopr... OMIM:615465
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Joubert Syndrome 2
Encephalocele, Depressed nasal bridge, Renal cyst, Hydrocephalus, Renal insufficiency, Nephronoph... OMIM:608091
Kapur-Toriello Syndrome
Cataract, Micropenis, Iris coloboma, Microphthalmia, Bulbous nose, Retinal coloboma, Low hanging ... OMIM:244300
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... ORPHA:79434
Stevenson-Carey Syndrome
Brachycephaly, Underdeveloped nasal alae, Microphthalmia, Anteverted nares, Coloboma, Prominent n... OMIM:611961
Microphthalmia, Syndromic 9
Hydronephrosis, Bilateral microphthalmos, Horseshoe kidney, Neonatal death, Wide nasal bridge, Pe... OMIM:601186
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Underdeveloped nasal alae, Microphthalmia, Hypoplasia of penis, ... ORPHA:284160
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Short nose, Microphthalmia, Depressed nasal ridge, Frontal bossing OMIM:300863
Fraser Syndrome 1
Encephalocele, Calvarial skull defect, Micropenis, Bilateral microphthalmos, Hydrocephalus, Myelo... OMIM:219000
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Micropenis, Pigmentary retinopathy, Underdeveloped nasal alae, Microphthalmia, Scleroco... OMIM:614230
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy OMIM:266130
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ... OMIM:618195
Charge Syndrome
Hydronephrosis, Depressed nasal bridge, Iris coloboma, Micropenis, Horseshoe kidney, Aqueductal s... ORPHA:138
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Ab... ORPHA:85167
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617547
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Micropenis, Microphthalmia OMIM:308350
Rodrigues Blindness
Narrow nasal bridge, Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Aqueductal stenosis, Turricephaly, Abnormality of retinal pigmentation ORPHA:1496
Arthrogryposis, Distal, Type 5
Keratoglobus, Deeply set eye, Astigmatism, Abnormality of retinal pigmentation, Keratoconus, Reti... OMIM:108145
Arachnoid Cyst
Encephalocele, Mydriasis, Hydrocephalus, Urinary incontinence, Urinary bladder sphincter dysfunct... ORPHA:2356
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Renal insufficiency, Retinal degeneration, Bone spicule pigmentation of th... OMIM:615986
Ring Chromosome 10 Syndrome
Frontal bossing, Wide nasal bridge, Microphthalmia, Hypertelorism ORPHA:1438
Mucolipidosis Type Iv
Biparietal narrowing, Abnormal nasal morphology, Abnormality of retinal pigmentation, Corneal opa... ORPHA:578
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Hydrocephalus, Microphthalmia, Buphthalmos, Retinal dystrophy OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Retinal atrophy, Megalocornea, Hydrocephalus, Retinal detachment, Occipital encephaloce... OMIM:236670
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Nance-Horan Syndrome
Posterior Y-sutural cataract, Prominent nasal bridge, Microphthalmia, Developmental cataract, Pro... OMIM:302350
Ring Chromosome 7 Syndrome
Plagiocephaly, Brachycephaly, Prominent nasal bridge, Short nose, Holoprosencephaly, Cafe-au-lait... ORPHA:1449
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Holoprosencephaly, Neonatal death, Anencephaly, Cystic renal dysplasia, Renal hypo... OMIM:269860
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Optic atrophy, Frontal bossing OMIM:615085
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Rod-cone dystrophy, Poste... OMIM:611131
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
3Q29 Microduplication Syndrome
Cataract, Biparietal narrowing, Craniosynostosis, Iris coloboma, Microphthalmia, Sclerocornea, An... ORPHA:251038
Posterior Column Ataxia With Retinitis Pigmentosa
Cataract, Pigmentary retinopathy, Urinary incontinence, Bone spicule pigmentation of the retina, ... OMIM:609033
Cerebrooculofacioskeletal Syndrome 1
Cataract, Prominent nasal bridge, Deeply set eye, Microphthalmia, Prominent nose OMIM:214150
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... OMIM:612095
Galloway-Mowat Syndrome 1
Cataract, Proteinuria, Diffuse mesangial sclerosis, Flat occiput, Renal insufficiency, Focal segm... OMIM:251300
Chromosome 6Pter-P24 Deletion Syndrome
Depressed nasal bridge, Brachycephaly, Hydrocephalus, Pigmentary retinopathy, Midface retrusion, ... OMIM:612582
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Prominent nasal bridge, Microphthalmia, Spontaneous conju... OMIM:601552
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:600105
Frontorhiny
Cataract, Encephalocele, Iris coloboma, Microphthalmia, Midline nasal groove, Basal encephalocele... ORPHA:391474
Premature Aging Syndrome, Penttinen Type
Prominent nasal bridge, Thin calvarium, Short nose, Microphthalmia, Shallow orbits, Midface retru... OMIM:601812
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... OMIM:616469
Duane-Radial Ray Syndrome
Cataract, Hydronephrosis, Iris coloboma, Optic disc hypoplasia, Horseshoe kidney, Choanal atresia... OMIM:607323
Isolated Arrhinia
Midline defect of the nose, Hypoplasia of the nasal bone, Underdeveloped nasal alae, Microphthalm... ORPHA:1134
Mycophenolate Mofetil Embryopathy
Iris coloboma, Hydrocephalus, Ectopic kidney, Bifid nose, Microphthalmia, Chorioretinal coloboma,... ORPHA:268249
Ramon Syndrome
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation ORPHA:3019
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia OMIM:600151
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Plagiocephaly, Depressed nasal bridge, Brachycephaly, Bilateral microphthalmos, Short nose, Midfa... ORPHA:369891
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Short nose, Microphthalmia, Depressed nasal ridge, Frontal bossing ORPHA:163966
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:613983
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypotelorism, Renal hypoplasia, Ketonuria, Microphthalmia OMIM:619053
Trichothiodystrophy 3, Photosensitive
Cataract, Trigonocephaly, Microphthalmia, Hypotelorism, Developmental cataract OMIM:616395
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Deeply set eye, Unilateral renal agenesis, Microphthalmia, Overhanging nasal tip,... OMIM:618494
Jalili Syndrome
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... OMIM:217080
Genitourinary And/Or Brain Malformation Syndrome
Micropenis, Astigmatism, Urogenital sinus anomaly, Short nose, Holoprosencephaly, Acrania, Aplasi... OMIM:618820
Meckel Syndrome, Type 5
Anencephaly, Occipital encephalocele, Microphthalmia, Renal cyst OMIM:611561
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Renal cyst, Microphthalmia, Anencephaly OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Retinal atrophy, Megalocornea, Hydrocephalus, Microphthalmia, Retinal degeneration, Bup... OMIM:253280
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Fanconi Anemia, Complementation Group S
Prominent nasal bridge, Underdeveloped nasal alae, Microphthalmia, Anteverted nares, Hypertelorism OMIM:617883
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy, Micropenis OMIM:245800
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Polycystic kidney dysplasia, Turricephaly, Pigmentary retinopathy, Op... OMIM:214110
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Long nose, Brachycephaly, Deeply set eye, Underdeveloped nasal alae, Microphthalmia, Pe... OMIM:257850
Focal Dermal Hypoplasia
Hydronephrosis, Broad nasal tip, Ectopia lentis, Iris coloboma, Bifid ureter, Myelomeningocele, L... OMIM:305600
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Microphthalmia, Lenz Type
Cataract, Hydronephrosis, Iris coloboma, Hydroureter, Microphthalmia, Chorioretinal coloboma, Opt... ORPHA:568
Sandestig-Stefanova Syndrome
Trigonocephaly, Microphthalmia, Convex nasal ridge, Wide nasal bridge, Developmental cataract OMIM:618804
Microphthalmia, Syndromic 2
Broad nasal tip, Iris coloboma, Prominent nasal bridge, Bifid nasal tip, Retinal detachment, Micr... OMIM:300166
Fibular Hemimelia
Craniosynostosis, Abnormal anterior chamber morphology, Anophthalmia, Spina bifida ORPHA:93323
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Microphthalmia, Thick nasal alae, Wide nasal bridge, Opt... OMIM:618727
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... OMIM:604116
Xeroderma Pigmentosum, Complementation Group B
Cataract, Freckling, Pigmentary retinopathy, Microphthalmia, Optic atrophy OMIM:610651
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Crossed fused renal ectopia, Horseshoe kidney, Microphthalmia, Frontal bossing, Ar... ORPHA:2538
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Microphthalmia, Syndromic 6
Plagiocephaly, Brachycephaly, Microphthalmia, Midface retrusion, Lambdoidal craniosynostosis, Scl... OMIM:607932
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Brachycephaly, Abnormality of retinal pigmentation ORPHA:1173
Jeune Syndrome
Renal insufficiency, Nephropathy, Nephronophthisis, Abnormality of retinal pigmentation ORPHA:474
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... OMIM:145350
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Micropenis, Hydrocephalus, Pigmentary retinopathy, Microphthalmia, Scler... OMIM:309801
Enhanced S-Cone Syndrome
Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Linear Nevus Sebaceus Syndrome
Biparietal narrowing, Plagiocephaly, Irregular hyperpigmentation, Iris coloboma, Microphthalmia, ... ORPHA:2612
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Abnormality of retinal pigmentation ORPHA:3085
Braddock-Carey Syndrome 2
Bulbous nose, Microphthalmia OMIM:619981
Oculo-Palato-Cerebral Syndrome
Cataract, Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Microtia-Anotia
Holoprosencephaly OMIM:600674
Charge Syndrome
Cataract, Hydronephrosis, Iris coloboma, Micropenis, Horseshoe kidney, Choanal atresia, Holoprose... OMIM:214800
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Hydrocephalus, Linear hyperpigmentation, Microphthalmia, Hypoplasia of the iris, ... OMIM:613001
Trichothiodystrophy 4, Nonphotosensitive
Short nose, Keratoconjunctivitis sicca, Microphthalmia, Anteverted nares, Optic atrophy, Microcornea OMIM:234050
Halperin-Birk Syndrome
Developmental cataract, Optic atrophy, Semilobar holoprosencephaly OMIM:618651
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation ... OMIM:615233
1Q21.1 Microdeletion Syndrome
Cataract, Hydronephrosis, Iris coloboma, Hydrocephalus, Deeply set eye, Microphthalmia, Frontal b... ORPHA:250989
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Hydronephrosis, Microphthalmia, Frontal bossing, Depressed nasal bridge, Microcornea, H... ORPHA:35173
Joubert Syndrome 3
Stage 5 chronic kidney disease, Pigmentary retinopathy, Nephronophthisis, Anteverted nares, Wide ... OMIM:608629
Juvenile Paget Disease
Cranial hyperostosis, Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Fraser Syndrome
Encephalocele, Calvarial skull defect, Myelomeningocele, Underdeveloped nasal alae, Urethral atre... ORPHA:2052
Bardet-Biedl Syndrome 17
Macular atrophy, Micropenis, Stage 5 chronic kidney disease, Cone/cone-rod dystrophy, Renal cyst,... OMIM:615994
Hallermann-Streiff Syndrome
Cataract, Platybasia, Iris coloboma, Brachycephaly, Spina bifida, Prominent nasal bridge, Thin ca... OMIM:234100
Gracile Bone Dysplasia
Aniridia, Micropenis, Microphthalmia, Hydrocephalus OMIM:602361
Chromosome 17Q12 Duplication Syndrome
Deeply set eye, Peters anomaly, Microphthalmia OMIM:614526
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Brachycephaly, Penoscrotal transposition, Deeply set eye, Trigonocephaly, Choanal ... OMIM:619148
Meckel Syndrome, Type 2
Encephalocele, Renal cyst, Meningocele, Microphthalmia, Anencephaly OMIM:603194
Ritscher-Schinzel Syndrome 3
Anteverted nares, Chorioretinal coloboma, Microphthalmia, Hypertelorism OMIM:619135
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Lobar holoprosencephaly, Semilobar holoprosencephaly, Neonatal death, Prominent occiput, Hypotelo... OMIM:618500
17Q12 Microduplication Syndrome
Deeply set eye, Microphthalmia ORPHA:261272
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Pelvis-Shoulder Dysplasia
Hydronephrosis, Bilateral microphthalmos, Iris coloboma, Hydrocephalus, Spina bifida, Hydranencep... ORPHA:2839
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Deeply set eye, Microphthalmia, Midface retrusion, Wide nasal bridge, Bulbous nose, Frontal bossi... OMIM:620098
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Biparietal narrowing, Anteverted nares, Abnormality of retinal pigmentation, Wide nasal bridge, O... ORPHA:2518
Neurocutaneous Melanocytosis
Numerous congenital melanocytic nevi, Meningocele, Abnormality of retinal pigmentation, Chorioret... ORPHA:2481
Deafness, X-Linked 7
Unilateral microphthalmos, Wide nasal bridge OMIM:301018
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder, Pigmentary retinopathy, Yellow/white lesions of the retina... ORPHA:100996
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly, Ureteral agenesis, Renal hypoplasia OMIM:617914
Moebius Syndrome
Depressed nasal bridge, Micropenis, Microphthalmia, Abnormal nasopharynx morphology, Hypertelorism OMIM:157900
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Micropenis ORPHA:370968
Iniencephaly
Encephalocele, Spinal dysraphism, Spina bifida, Myelomeningocele, Hydrocephalus, Holoprosencephal... ORPHA:63259
Cln3 Disease
Cataract, Pigmentary retinopathy, Urinary bladder sphincter dysfunction, Optic atrophy, Bull's ey... ORPHA:228346
Chromosome Xp11.3 Deletion Syndrome
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Rod-cone d... OMIM:300578
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... OMIM:605549
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Microphthalmia, Retinopathy, Microcornea, Hypospadias ORPHA:2505
Heart And Brain Malformation Syndrome
Microphthalmia, Anteverted nares, Prominent occiput, Wide nasal bridge, Depressed nasal bridge, H... OMIM:616920
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Retinal pigment epithelial mottling, Corneal crystal... OMIM:219900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Stage 5 chronic kidney disease, Glycosuria, Renal Fanconi syndrome, Optic disc pallor, ... OMIM:268315
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hydronephrosis, Microphthalmia, Anteverted nares, Hypospadias, Microcornea, Hypertelorism OMIM:616449
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Severe Oculo-Renal-Cerebellar Syndrome
Cataract, Proteinuria, Hypopigmented skin patches, Abnormal retinal vascular morphology, Renal in... ORPHA:2715
Microtia
Holoprosencephaly ORPHA:83463
Acro-Renal-Ocular Syndrome
Cataract, Iris coloboma, Optic disc hypoplasia, Horseshoe kidney, Bladder diverticulum, Microphth... ORPHA:959
Smith-Lemli-Opitz Syndrome
Cataract, Hydronephrosis, Penoscrotal hypospadias, Micropenis, Renal cyst, Hydrocephalus, Uretero... OMIM:270400
Bosma Arhinia Microphthalmia Syndrome
Cataract, Micropenis, Choanal atresia, Microphthalmia, Midface retrusion, Anosmia, Hypospadias, H... OMIM:603457
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Astigmatism, Cafe-au-lait spot, Microphthalmia, Optic nerve hypoplasia, Vesicou... OMIM:609053