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/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chorioretinal coloboma... OMIM:611638
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Solitary Median Maxillary Central Incisor
Cyclopia, Microphthalmia, Hypotelorism, Anophthalmia, Coloboma, Anosmia, Choanal atresia, Midnasa... OMIM:147250
Holoprosencephaly 5
Semilobar holoprosencephaly, Hypotelorism, Alobar holoprosencephaly, Hydrocephalus, Anteverted na... OMIM:609637
Holoprosencephaly 3
Abnormality of the nose, Cyclopia, Hypotelorism, Proboscis, Single naris, Proptosis, Hydronephros... OMIM:142945
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, H... ORPHA:324416
Proboscis Lateralis
Cyclopia, Microphthalmia, Single naris, Unilateral renal agenesis, Proboscis, Anophthalmia, Optic... ORPHA:141099
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microphthalmia/Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Cerebrooculonasal Syndrome
Brachycephaly, Short nose, Proboscis, Encephalocele, Anophthalmia, Hydrocephalus, Anteverted nare... OMIM:605627
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
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
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cyst... OMIM:611040
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma OMIM:120433
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism, Renal insufficiency ORPHA:2165
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto... ORPHA:1473
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ... OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Proptosis, Prominent nose, Retinopathy, Cataract, Mac... OMIM:616171
Pyknoachondrogenesis
Stillbirth OMIM:265880
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormal... OMIM:251270
Acalvaria
Hydrocephalus, Calvarial skull defect, Spina bifida, Holoprosencephaly, Hypertelorism ORPHA:945
Trisomy 18
Short nose, Cyclopia, Microphthalmia, Anencephaly, Prominent occiput, Microcornea, Choanal atresi... ORPHA:3380
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Shallow anterior chamber, Intraretinal exudate,... OMIM:305390
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Holoprosencephaly 2
Semilobar holoprosencephaly, Cyclopia, Microphthalmia, Hypotelorism, Proboscis, Alobar holoprosen... OMIM:157170
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Neonatal death, Broad nasal tip, Wide nasal bridge OMIM:615524
Holoprosencephaly 1
Cyclopia, Microphthalmia, Hypotelorism, Proboscis, Alobar holoprosencephaly, Ethmocephaly, Microp... OMIM:236100
Microform Holoprosencephaly
Short nose, Cyclopia, Hypotelorism, Hypoplasia of penis, Narrow nasal bridge, Anteverted nares, C... ORPHA:280200
Hartsfield Syndrome
Microphthalmia, Encephalocele, Lobar holoprosencephaly, Craniosynostosis, Hypertelorism, Depresse... ORPHA:2117
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity, Abnormal calvaria morphology ORPHA:2432
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Coloboma, C... OMIM:610125
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Cyclopia, Hypoplasia of penis, Holoprosencephaly, Absent nares, Aplasia/Hypoplasia involving the ... ORPHA:990
Distal Deletion 13Q
Optic atrophy, Anencephaly, Encephalocele, Aplasia/Hypoplasia affecting the eye, Holoprosencephal... ORPHA:1590
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Holoprosencephaly
Microphthalmia, Hypoplasia of penis, Anosmia, Retinopathy, Absent nares, Optic atrophy, Cyclopia,... ORPHA:2162
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Exudative retinal detachment, Abnormal anterior eye segment morphology, Subretina... ORPHA:209956
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Meckel Syndrome, Type 8
Occipital encephalocele, Enlarged kidney, Short nose, Microphthalmia, Encephalocele, Anophthalmia... OMIM:613885
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal colobom... ORPHA:139471
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Hydrocephalus, Anophthalmia, Sclerocornea, Holo... ORPHA:77298
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas... ORPHA:231736
Holoprosencephaly 14
Aqueductal stenosis, Cyclopia, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Anteverted nar... OMIM:619895
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Anencephaly 2
Bifid nose, Anencephaly, Anophthalmia OMIM:619452
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Hypertelorism, Iris coloboma ORPHA:1104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia, Retinal dysplasia OMIM:614830
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Pseudotrisomy 13 Syndrome
Cyclopia, Microphthalmia, Hypotelorism, Encephalocele, Hydrocephalus, Renal hypoplasia, Holoprose... OMIM:264480
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Frontal bossing, Craniosynos... ORPHA:1528
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Retinal dysplasia, Hypoplasia of penis, Retinal dystrophy, Retinal... ORPHA:899
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, Brachycephaly ORPHA:2528
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Vitreous hemorrhage, Retinal neovascular... ORPHA:891
Trisomy 13
Optic atrophy, Microphthalmia, Hypotelorism, Anophthalmia, Abnormality of the ureter, Hydronephro... ORPHA:3378
Holoprosencephaly 7
Microphthalmia, Cranial asymmetry, Shallow orbits, Hypoplastic nasal septum, Hydrocephalus, Depre... OMIM:610828
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Hypotelorism, Abnormality of retinal pigmentation, Holoprosencephal... ORPHA:2163
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ... OMIM:212550
Cofs Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Abnormal nasal morphology, Ca... ORPHA:1466
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Microphthalmia, Hypotelorism, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocep... ORPHA:2166
Craniotelencephalic Dysplasia
Microphthalmia, Hypotelorism, Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele OMIM:218670
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Alobar holoprosencephaly, Dolichocephaly, Hypertelorism, Micropenis OMIM:615433
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:300915
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Triploidy
Hypospadias, Hypoplasia of penis, Meningocele, Hydrocephalus, Aplasia/Hypoplasia affecting the ey... ORPHA:3376
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Distal Monosomy 7Q36
Optic atrophy, Abnormal calvaria morphology, Hypoplasia of penis, Holoprosencephaly, Bulbous nose ORPHA:1636
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Chorioretinal coloboma, Hypertelorism, Iris coloboma ORPHA:195
1Q41Q42 Microdeletion Syndrome
Hypotelorism, Abnormality iris morphology, Underdeveloped nasal alae, Frontal bossing, Broad nasa... ORPHA:250999
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Microphthalmia, Cleft ala nasi, Anophthalmia OMIM:164180
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Coloboma OMIM:274270
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Hydrocephalus, Holoprosencephaly, Cataract ORPHA:588
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma OMIM:610023
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Frontofacionasal Dysplasia
Brachycephaly, Short nose, Microphthalmia, Encephalocele, Dimple on nasal tip, Microcornea, Bifid... ORPHA:1791
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cystic renal dysplasia, Ectopic kidney, Neonatal death, Cataract, Optic disc pallor OMIM:613730
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Hypotelorism, Anteverted nares, Trigonocephaly, Frontal bossing, Dolichocephaly, ... OMIM:612530
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Biemond Syndrome Type 2
Hydrocephalus, Coloboma, Microphthalmia, Hypospadias ORPHA:141333
Gombo Syndrome
Microphthalmia OMIM:233270
Ring Chromosome 14 Syndrome
Anteverted nares, Pigmentary retinopathy, Depressed nasal ridge, Dolichocephaly, Flat occiput, Hy... OMIM:616606
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Iris coloboma, Hypotelorism, Microphthalmia, Holoprosencephaly, Aplasia of the nose ORPHA:3186
Holoprosencephaly 11
Hypotelorism, Proptosis, Holoprosencephaly OMIM:614226
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Flat occiput, Astigmatism, Microphthalmia, Myopic astigmatism, Retinal detachment,... OMIM:152950
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin... OMIM:193220
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Coloboma, Cataract, Hypertelorism ORPHA:1617
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Temtamy Syndrome
Microphthalmia, Dolichocephaly, Chorioretinal coloboma, Convex nasal ridge, Hypertelorism, Iris c... ORPHA:1777
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Cloverleaf skull, Proptosis, Frontal bossing, Holoprosencephaly, De... ORPHA:93274
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Ocular anterior segment dysgenesis, Hypertelorism OMIM:245552
16P13.11 Microdeletion Syndrome
Short nose, Cyclopia, Anteverted nares, Holoprosencephaly, Depressed nasal bridge ORPHA:261236
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose ORPHA:411986
Jacobsen Syndrome
Optic atrophy, Short nose, Microphthalmia, Hypospadias, Hydrocephalus, Anteverted nares, Microcor... OMIM:147791
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Cerebrooculonasal Syndrome
Abnormal nostril morphology, Brachycephaly, Anophthalmia, Hypoplasia of penis, Hypertelorism ORPHA:66625
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Stromme Syndrome
Stillbirth, Short columella, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Microcornea, ... OMIM:243605
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Bresek Syndrome
Plagiocephaly, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Vesicoureteral reflux, Rena... ORPHA:85284
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic aciduria, Elevated urinary aminoisobutyric acid, Short nose, Microphthalmia, Anteve... OMIM:614105
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Optic atrophy, Pigmentary retinopathy, Frontal bossing, Hypertelorism, Rod-cone dy... OMIM:264470
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Nance-Horan Syndrome
Microphthalmia, Retinal detachment, Microcornea, Prominent nose, Prominent nasal bridge, Cataract ORPHA:627
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Monosomy 18P
Brachycephaly, Microphthalmia, Holoprosencephaly, Wide nasal bridge ORPHA:1598
Leber Congenital Amaurosis 2
Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara... OMIM:204100
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph... ORPHA:41751
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Joubert Syndrome 22
Renal hypoplasia, Coloboma, Microphthalmia, Retinal dysplasia OMIM:615665
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Cataract OMIM:615181
Frontonasal Dysplasia 1
Microphthalmia, Coloboma, Bifid nasal tip, Anterior basal encephalocele, Broad nasal tip, Bifid n... OMIM:136760
Microphthalmia/Coloboma 12
Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ... OMIM:120200
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Monosomy 13Q14
Microphthalmia, Retinoblastoma, Trigonocephaly, Prominent nasal bridge, Holoprosencephaly, Catara... ORPHA:1587
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Cyclopia, Alobar holoprosencephaly, Optic nerve hypoplasia, Septo-op... OMIM:301043
Trisomy 1Q
Hypotelorism, Congenital megaureter, Wide nose, Hydrocephalus, Anophthalmia, Frontal bossing, Hyd... ORPHA:261344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Microphthalmia, Encephalocele, Retinal dysplasia, Retinal detachment, Hydrocephalu... OMIM:253800
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Proptosis, Holoprosencephaly, Spinal dysr... ORPHA:1908
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit... OMIM:310600
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, Anteverted nares, Microcornea, Developmental cataract, Deeply set ... OMIM:600118
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Chronic kidney disease,... ORPHA:3156
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Prominent nose, Developmental cataract, Cataract, Convex nasal ridge, Deeply set ... OMIM:610756
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco... OMIM:615145
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Ocular anterior segment dysgenesis, Chorioretinal at... OMIM:612109
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot... ORPHA:411527
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Short nose, Microphthalmia, Retinal detachment, Anteverted nares, Anterior plagioc... ORPHA:163649
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Retinal coloboma, Holoprosencephaly, Aplasia of the nose OMIM:184705
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling OMIM:300814
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Abnormality of the sense of smell, Deep... ORPHA:2189
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Retinal detachment, Coloboma, Corneal opacity, Cataract OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia, Developmental cataract, Retinal dystrophy OMIM:613155
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Hydranencephaly OMIM:617967
Meckel Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Ureteral duplication, Anencepha... ORPHA:564
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Prominent occiput, Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Coloboma, Sclerocornea, Ectopia pupillae,... OMIM:615877
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se... OMIM:610256
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Pierpont Syndrome
Brachycephaly, Short nose, Microphthalmia, Wide nose, Microcornea, Broad nasal tip, Deeply set ey... OMIM:602342
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly, Optic atrophy, Microphthalmia, Coloboma, Abnormality of skin pigmentation, Catarac... OMIM:612379
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Hyaloid vascular remnant and retrolental mass, Microcornea, Corneal opacity, Pers... ORPHA:91495
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Cloverleaf skull, Frontal bossing, Cataract, Hypertelorism, Platybasia, Wide nasa... ORPHA:93267
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Bifid nasal tip, Broad nasal tip, Hypert... OMIM:248450
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Leber Congenital Amaurosis 1
Keratoconus, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreon... OMIM:204000
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Facial Clefting, Oblique, 1
Coloboma, Microphthalmia OMIM:600251
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Hypotelorism, Retinoblastoma, Frontal bossing, Dolichocephaly, Holoprosencephaly,... OMIM:613884
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Leber Congenital Amaurosis
Encephalocele, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation, ... ORPHA:65
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal... OMIM:221900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Choanal atresia, Abnormality of the sense of smell, Hypertelorism, Aplasia/Hypopl... ORPHA:1135
Holoprosencephaly 4
Semilobar holoprosencephaly, Hypotelorism, Depressed nasal tip, Absent nasal septal cartilage, De... OMIM:142946
Bornholm Eye Disease
Optic nerve hypoplasia, Astigmatism, Abnormality of retinal pigmentation OMIM:300843
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Oculotrichoanal Syndrome
Bifid nasal tip, Microphthalmia, Hypertelorism, Anophthalmia ORPHA:2717
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Holoprosencephaly OMIM:601357
Pierpont Syndrome
Brachycephaly, Microphthalmia, Microcornea, Wide nasal ridge, Deeply set eye, Hypertelorism ORPHA:487825
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy, Hypoplasia of penis OMIM:275400
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia, Hydrocephalus, Developmental cataract, Hypertelorism, Bulbous nose... OMIM:614219
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Polycystic kidney dysplasia, Anteverted nares, Decreased... OMIM:619879
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Semilobar Holoprosencephaly
Cyclopia, Hypotelorism, Proboscis, Single naris, Neural tube defect, Hydrocephalus, Depressed nas... ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Hypotelorism, Proboscis, Single naris, Neural tube defect, Hydrocephalus, Depressed nas... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Hypotelorism, Proboscis, Single naris, Neural tube defect, Hydrocephalus, Depressed nas... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Hypotelorism, Proboscis, Single naris, Neural tube defect, Hydrocephalus, Depressed nas... ORPHA:93924
Temtamy Syndrome
Microphthalmia, Lens luxation, Frontal bossing, Ectopia lentis, Chorioretinal coloboma, Convex na... OMIM:218340
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Hematuria, Nephrolithiasis, Abnormality of retinal pigmentation, Chorioretinal ... ORPHA:2196
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Abnormal vitreous humor morphology, Aniridia, Anophthalmia, Corneal dystrophy, Meg... ORPHA:1101
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Holoprosencephaly, Hydranencephaly ORPHA:2570
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Microphthalmia, Hypotelorism ORPHA:3469
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Microphthalmia, Encephalocele, Anteverted nares, Underdeveloped nasal alae, Calvar... ORPHA:228390
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Co... ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Hydrocephalus, Coloboma, Cataract, Retinal degeneration OMIM:615249
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Single naris, Hypoplasia of penis, Hyposmia, Anophthalmia, Anosmia, Cataract, Abs... ORPHA:2250
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Generalized hypopigmentation, Microcornea, Colobom... OMIM:617306
Warburg Micro Syndrome 2
Brachycephaly, Short nose, Optic atrophy, Microphthalmia, Microcornea, Developmental cataract, Pr... OMIM:614225
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Frontonasal Dysplasia 3
Brachycephaly, Microphthalmia, Hypertelorism, Wide nasal bridge, Underdeveloped nasal alae OMIM:613456
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia, Abnormality of retinal pigmentation ORPHA:858
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Lissencephaly 8
Cataract, Occipital encephalocele, Optic atrophy, Microphthalmia OMIM:617255
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Ring Chromosome 21 Syndrome
Holoprosencephaly, Multiple cafe-au-lait spots ORPHA:1445
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Warburg Micro Syndrome 4
Brachycephaly, Optic atrophy, Microphthalmia, Anteverted nares, Microcornea, Developmental catara... OMIM:615663
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Coloboma, Frontal bossing, Opt... OMIM:206900
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Frontal bossing, Retinal degeneration, Micropenis, Pigmentary retinopathy ORPHA:3363
49,Xxxxy Syndrome
Brachycephaly, Wide nose, Hypoplasia of penis, Depressed nasal ridge, Holoprosencephaly, Hypertel... ORPHA:96264
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613581
Papillorenal Syndrome
Microphthalmia, Stage 5 chronic kidney disease, Lens luxation, Macular degeneration, Chorioretina... OMIM:120330
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Microphthalmia, Hypertelorism, Depressed nasal bridge OMIM:602501
Micro Syndrome
Optic atrophy, Short nose, Microphthalmia, Hypoplasia of penis, Anteverted nares, Microcornea, Re... ORPHA:2510
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Megalopapilla, Single naris, Encephalocele, Anophthalmia,... OMIM:615636
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma, Conjunctival hyperemia, Dolichocephaly, Hypertelorism, Wide nasal bridg... OMIM:167730
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Semilobar holoprosencephaly, Lambdoidal craniosynostosis OMIM:601370
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Iris hypopigmentation, Catara... ORPHA:85194
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Joubert Syndrome 28
Optic disc pallor, Hypertelorism, Wide nasal bridge, Pigmentary retinopathy OMIM:617121
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Microphthalmia, Astigmatism, Retinal coloboma, Frontal bossing, Dolichocephaly, Catar... OMIM:618571
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Wide nose, Anteverted nares, Cataract OMIM:619694
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ... ORPHA:79435
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Microphthalmia, Hypertelorism, Optic disc pallor OMIM:300887
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Low hanging columella, Coloboma, Unilateral microphthalmos, Horseshoe k... OMIM:619318
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Microphthalmia, Abnormality iris morphology, Optic nerve ... ORPHA:370959
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Wide nose, Coloboma, Corneal opacity, Depressed nasal t... ORPHA:2399
Cockayne Syndrome Type 1
Optic atrophy, Hypermelanotic macule, Anophthalmia, Proteinuria, Conjunctivitis, Cataract, Deeply... ORPHA:90321
Otodental Syndrome
Microphthalmia, Anteverted nares, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris co... ORPHA:2791
Joubert Syndrome 37
Microphthalmia, Wide nose, Anteverted nares, Frontal bossing, Hydronephrosis, Deeply set eye, Hyp... OMIM:619185
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Microphthalmia, Wide nose, Retinal dysplasia, Retinal dystrophy, Anteverted nares,... ORPHA:2526
Waardenburg-Shah Syndrome
Abnormality of the nose, Premature graying of hair, Hypopigmentation of hair, White forelock, Abn... ORPHA:897
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Neonatal Adrenoleukodystrophy
Optic atrophy, Anteverted nares, Dolichocephaly, Abnormality of retinal pigmentation, Cataract, W... ORPHA:44
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Hydrocephalus, Microcornea, Septo-optic dysplasia, Cataract, Multi... ORPHA:3301
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Joubert Syndrome 14
Optic atrophy, Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Coloboma, Renal cyst, P... OMIM:614424
Curry-Jones Syndrome
Hypopigmented skin patches, Microphthalmia, Optic disc coloboma, Craniosynostosis, Hypertelorism,... ORPHA:1553
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Mulibrey Nanism
Astigmatism, Wide nose, Corneal dystrophy, Pigmentary retinopathy, Frontal bossing, Dolichocephal... OMIM:253250
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Hypopigmented skin patches, Microphthalmia, Abnormal vitreous humor morphology, Hypos... ORPHA:2556
Congenital Rubella Syndrome
Microphthalmia, Corneal opacity, Abnormality of retinal pigmentation, Cataract, Aplasia/Hypoplasi... ORPHA:290
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Microphthalmia With Limb Anomalies
Short nose, Microphthalmia, Anophthalmia, Flared nostrils, Frontal bossing, Depressed nasal bridge OMIM:206920
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Vici Syndrome
Optic atrophy, Hypotelorism, Renal tubular acidosis, Hypopigmentation of the skin, Depressed nasa... ORPHA:1493
Frontonasal Dysplasia 2
Brachycephaly, Microphthalmia, Cleft ala nasi, Encephalocele, Parietal foramina, Anteverted nares... OMIM:613451
Vacterl With Hydrocephalus
Aqueductal stenosis, Microphthalmia, Anophthalmia, Hydrocephalus, Microcornea, Abnormal optic ner... ORPHA:3412
Holoprosencephaly 9
Short nose, Microphthalmia, Hypotelorism, Single naris, Alobar holoprosencephaly, Hydrocephalus, ... OMIM:610829
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Coloboma, Prominent nasal bridge, Peters anomaly, Hypertelorism OMIM:618652
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Anteverted nares, Vesicoureteral reflux,... ORPHA:494344
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Wide nose, Corneal opacity, Multiple cafe-au-lait spots, Depressed nasal ridge, F... ORPHA:1052
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Optic disc coloboma, Opacification of the corneal stroma, I... OMIM:169550
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto... OMIM:618173
Baraitser-Winter Syndrome 1
Short nose, Microphthalmia, Anteverted nares, Trigonocephaly, Chorioretinal coloboma, Hypertelori... OMIM:243310
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Short nose, Hypotelorism, Anteverted nares, Lobar holoprosencephaly, Hypertelorism... OMIM:614701
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microphthalmia, Hydroureter, Hypoplasia of penis, Frontal bossing ORPHA:2547
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Encephalocele, Retinal detachment, Optic nerve hypoplasia, Hyd... OMIM:614643
Diprosopus
Abnormality of the nose, Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Hypotelorism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Op... ORPHA:468631
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypotelorism, Hypospadias, Hydrocephalus, Microphallus, Depressed nasal tip, Dol... OMIM:612651
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Microco... OMIM:609049
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Pallister-Hall Syndrome
Short nose, Microphthalmia, Hydroureter, Ectopic kidney, Anteverted nares, Choanal atresia, Renal... OMIM:146510
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Sjögren-Larsson Syndrome
Corneal erosion, Macular degeneration, Retinopathy, Abnormality of retinal pigmentation, Generali... ORPHA:816
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Conjunctivitis, Abs... ORPHA:448237
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney ORPHA:2470
Cockayne Syndrome Type 2
Hypermelanotic macule, Developmental cataract, Anophthalmia, Conjunctivitis ORPHA:90322
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Retinal coloboma, Bulbous nose, Iris coloboma ORPHA:2328
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Hyperpigmented nevi, Ethmoidal encephalocele, Optic nerve hypoplasia, B... OMIM:607597
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of the nose, Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal reti... ORPHA:1390
Baraitser-Winter Syndrome 2
Trigonocephaly, Coloboma, Hypertelorism, Microphthalmia OMIM:614583
Agnathia-Otocephaly Complex
Holoprosencephaly, Wide nose OMIM:202650
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Warburg Micro Syndrome 3
Brachycephaly, Short nose, Optic atrophy, Microphthalmia, Microcornea, Shallow anterior chamber, ... OMIM:614222
Mmep Syndrome
Microphthalmia ORPHA:3434
Smith-Lemli-Opitz Syndrome
Optic atrophy, Hypospadias, Hypopigmentation of hair, Hypoplasia of penis, Anteverted nares, Prop... ORPHA:818
Seckel Syndrome 2
Microphthalmia, Ectopic kidney, Hypospadias, Few cafe-au-lait spots, Prominent nose OMIM:606744
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Isolated Exencephaly
Abnormal calvaria morphology, Hypoplasia of the frontal bone, Proptosis, Holoprosencephaly, Depre... ORPHA:563612
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Multiple Sulfatase Deficiency
Optic atrophy, Hydrocephalus, Anteverted nares, Corneal opacity, Mucopolysacchariduria, Abnormali... ORPHA:585
Aplasia Cutis-Myopia Syndrome
Calvarial skull defect, Abnormality of retinal pigmentation ORPHA:1117
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
14Q22Q23 Microdeletion Syndrome
Brachycephaly, Anophthalmia, Proptosis, Renal hypoplasia, Optic nerve aplasia, Hypertelorism, Und... ORPHA:264200
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Oculofaciocardiodental Syndrome
Microphthalmia, Retinal detachment, Microcornea, Bifid nasal tip, Ectopia lentis, Prominent nasal... ORPHA:2712
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Hypotelorism, Prominent occiput, Abnormal external nose morphology, ... ORPHA:556955
Refsum Disease
Microphthalmia, Anosmia, Retinopathy, Abnormality of retinal pigmentation, Cataract, Renal insuff... ORPHA:773
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Oculocutaneous Albinism Type 2
Iris transillumination defect, Optic nerve misrouting, Macular hypopigmentation, Hypopigmentation... ORPHA:79432
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Narrow nasal bridge, Corneal dystrophy, Microcornea, Abnormality of skin pigmenta... ORPHA:1806
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Joubert Syndrome 2
Microphthalmia, Nephronophthisis, Retinal dystrophy, Encephalocele, Hydrocephalus, Renal cyst, Fr... OMIM:608091
Stevenson-Carey Syndrome
Brachycephaly, Microphthalmia, Anteverted nares, Coloboma, Prominent nasal tip, Underdeveloped na... OMIM:611961
Frontofacionasal Dysplasia
Brachycephaly, Short nose, Midline defect of the nose, Microphthalmia, Microcornea, Hypoplasia of... OMIM:229400
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cataract, Mild proteinuria OMIM:301108
Hartsfield Syndrome
Semilobar holoprosencephaly, Hypotelorism, Hypospadias, Wide nose, Alobar holoprosencephaly, Hypo... OMIM:615465
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Prominent occiput, Corneal opacity, Ante... OMIM:619339
Kapur-Toriello Syndrome
Microphthalmia, Low hanging columella, Retinal coloboma, Cataract, Bulbous nose, Micropenis, Iris... OMIM:244300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Microphthalmia, Hydrocephalus, Depressed nasal ridge, Frontal bossing OMIM:300863
Fanconi Anemia, Complementation Group G
Microphthalmia, Multiple cafe-au-lait spots OMIM:614082
8Q21.11 Microdeletion Syndrome
Microphthalmia, Wide nose, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocor... ORPHA:284160
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Renal hypoplasia, Neonatal death, Hydronep... OMIM:601186
Fraser Syndrome 1
Bilateral microphthalmos, Hypospadias, Cleft ala nasi, Wide nose, Encephalocele, Hydrocephalus, U... OMIM:219000
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoglobus, Keratoconus, Abnormality of retinal pigmentation, Deeply set eye, Reti... OMIM:108145
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Microphthalmia, Coloboma, Retinal atrophy, Corneal opacity, Cone/cone-rod dystr... ORPHA:85167
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Pigmentary retinopathy, Sclerocornea, Cataract, Hypertelorism, Micropenis, Wide n... OMIM:614230
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine OMIM:266130
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia, Micropenis OMIM:308350
Charge Syndrome
Optic atrophy, Aqueductal stenosis, Microphthalmia, Anophthalmia, Coloboma, Vesicoureteral reflux... ORPHA:138
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal dystrophy, Atten... OMIM:617547
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea, Narrow nasal bridge OMIM:268320
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Craniosynostosis, Turricephaly, Abnormality of retinal pigmentation ORPHA:1496
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Traboulsi Syndrome
Convex nasal ridge, Microphthalmia, Spherophakia, Homocystinuria, Wide nose, Phakodonesis, Iris a... OMIM:601552
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Retinal degeneration, Attenuation of retina... OMIM:615986
Arachnoid Cyst
Mydriasis, Urinary incontinence, Encephalocele, Hydrocephalus, Urinary bladder sphincter dysfunct... ORPHA:2356
Mucolipidosis Type Iv
Corneal opacity, Biparietal narrowing, Retinopathy, Abnormality of retinal pigmentation, Abnormal... ORPHA:578
Ring Chromosome 10 Syndrome
Frontal bossing, Microphthalmia, Hypertelorism, Wide nasal bridge ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Retinal dystrophy, Hydrocephalus, Cataract, Buphthalmos OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Microphthalmia, Retinal dysplasia, Retinal detachment, Op... OMIM:236670
Ring Chromosome 7 Syndrome
Brachycephaly, Plagiocephaly, Short nose, Hypotelorism, Hypospadias, Hyperpigmented nevi, Antever... ORPHA:1449
Nance-Horan Syndrome
Microphthalmia, Microcornea, Posterior Y-sutural cataract, Developmental cataract, Prominent nasa... OMIM:302350
Retinitis Pigmentosa 37
Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Rod-cone dystroph... OMIM:611131
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... OMIM:600132
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Renal hypoplasia, Neonatal death, Holoprosencephaly, Hypertelorism, C... OMIM:269860
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Biparietal narrowing, Sclerocornea, Cataract, Craniosynostosis, Wide na... ORPHA:251038
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Urinary incontinence, Attenuation of reti... OMIM:609033
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Prominent nose, Prominent nasal bridge, Cataract, Deeply set eye OMIM:214150
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Frontal bossing, Unilateral microphthalmos OMIM:615085
Bardet-Biedl Syndrome 3
Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Fanconi Anemia, Complementation Group J
Microphthalmia, Multiple cafe-au-lait spots OMIM:609054
Frontorhiny
Microphthalmia, Encephalocele, Midline nasal groove, Basal encephalocele, Cataract, Cranium bifid... ORPHA:391474
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Spina bifida occulta, Vesicoureteral reflux, Choanal atres... OMIM:607323
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney, Hydrocephalus, Bifid nose, Chorioretinal coloboma, Hypertelorism,... ORPHA:268249
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Unilateral renal agenesis, Low hanging columella, Renal hypoplasia, Hydronephrosi... OMIM:618494
Genitourinary And/Or Brain Malformation Syndrome
Short nose, Astigmatism, Hypospadias, Urogenital sinus anomaly, Aplasia of the nasal bone, Chorde... OMIM:618820
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Microphthalmia, Hydrocephalus, Depressed nasal ridge, Frontal bossing ORPHA:163966
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Microphthalmia, Hypotelorism, Ketonuria OMIM:619053
Ramon Syndrome
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation ORPHA:3019
Isolated Arrhinia
Midline defect of the nose, Microphthalmia, Aplasia/Hypoplasia of the nasal septum, Absent nasal ... ORPHA:1134
Chromosome 6Pter-P24 Deletion Syndrome
Brachycephaly, Ocular anterior segment dysgenesis, Hydrocephalus, Axenfeld anomaly, Pigmentary re... OMIM:612582
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Retinal detachment, Microcornea, Bifid nasal tip, Remn... OMIM:300166
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Astigmatism, Thick nasal alae, Ectopia pupillae, Cataract, Wide na... OMIM:618727
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Fanconi Anemia, Complementation Group S
Microphthalmia, Anteverted nares, Prominent nasal bridge, Hypertelorism, Underdeveloped nasal alae OMIM:617883
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Renal cyst OMIM:611134
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Long nose, Microphthalmia, Microcornea, Underdeveloped nasal alae, Persistent pupi... OMIM:257850
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Ocular anterior segment dysgenesis, Short nose, Bilateral microphth... ORPHA:369891
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Hypotelorism, Trigonocephaly, Developmental cataract, Cataract OMIM:616395
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Microphthalmia, Lenz Type
Microphthalmia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, Chorioretinal coloboma, Op... ORPHA:568
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Renal cyst OMIM:611561
Sandestig-Stefanova Syndrome
Microphthalmia, Trigonocephaly, Developmental cataract, Convex nasal ridge, Wide nasal bridge OMIM:618804
Laurence-Moon Syndrome
Chorioretinal atrophy, Micropenis, Pigmentary retinopathy OMIM:245800
Focal Dermal Hypoplasia
Optic atrophy, Microphthalmia, Ureteral duplication, Aniridia, Cleft ala nasi, Narrow nasal bridg... OMIM:305600
Premature Aging Syndrome, Penttinen Type
Short nose, Microphthalmia, Hypotelorism, Corneal stromal edema, Corneal opacity, Proptosis, Shal... OMIM:601812
Galloway-Mowat Syndrome 1
Optic atrophy, Flat occiput, Microphthalmia, Narrow nasal ridge, Hypopigmentation of the skin, Fo... OMIM:251300
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
1Q21.1 Microdeletion Syndrome
Microphthalmia, Hydrocephalus, Vesicoureteral reflux, Frontal bossing, Hydronephrosis, Cataract, ... ORPHA:250989
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Cataract, Freckling, Pigmentary retinopathy OMIM:610651
Fibular Hemimelia
Anophthalmia, Abnormal anterior chamber morphology, Craniosynostosis, Spina bifida ORPHA:93323
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Turricephaly, Polycystic kidney dysplasia, Dolichocephaly, Brushfield spot... OMIM:214110
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract ORPHA:2714
Joubert Syndrome 3
Nephronophthisis, Retinal dystrophy, Anteverted nares, Stage 5 chronic kidney disease, Wide nasal... OMIM:608629
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Microtia-Anotia
Holoprosencephaly OMIM:600674
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Braddock-Carey Syndrome 2
Microphthalmia, Bulbous nose OMIM:619981
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hypospadias, Hydrocephalus, Chordee, Sclerocornea, Cataract, Peters anomaly, Micr... OMIM:309801
Chromosome 17Q12 Duplication Syndrome
Deeply set eye, Peters anomaly, Microphthalmia OMIM:614526
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Short nose, Microphthalmia, Anteverted nares, Microcornea, Keratoconjunctivitis sicca OMIM:234050
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Linear hyperpigmentation, Hydrocephalus, Pelvic kidney, Hypoplasia of the iris, H... OMIM:613001
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Developmental cataract OMIM:618651
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Microcornea, Frontal bossing, Hydronephrosis, Cataract, Hypertelorism, Depressed ... ORPHA:35173
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Abnormality of retinal pigmentation, Nephropathy ORPHA:474
Gracile Bone Dysplasia
Hydrocephalus, Microphthalmia, Micropenis, Aniridia OMIM:602361
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Abnormality of retinal pigmentation ORPHA:3085
Linear Nevus Sebaceus Syndrome
Irregular hyperpigmentation, Plagiocephaly, Microphthalmia, Prominent occiput, Biparietal narrowi... ORPHA:2612
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti... OMIM:615233
Hallermann-Streiff Syndrome
Brachycephaly, Microphthalmia, Underdeveloped nasal alae, Spina bifida, Frontal bossing, Scaphoce... OMIM:234100
Charge Syndrome
Microphthalmia, Anophthalmia, Coloboma, Anosmia, Choanal atresia, Retinal coloboma, Unilateral mi... OMIM:214800
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Brachycephaly, Microphthalmia, Hypospadias, Anencephaly, Low hanging c... OMIM:619148
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Ritscher-Schinzel Syndrome 3
Anteverted nares, Microphthalmia, Hypertelorism, Chorioretinal coloboma OMIM:619135
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Hypotelorism, Prominent occiput, Lobar holoprosencephaly, Neonatal d... OMIM:618500
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Microphthalmia, Anophthalmia, Frontal bossing, Crossed fused renal ectopia, Multic... ORPHA:2538
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Renal cyst OMIM:603194
Bardet-Biedl Syndrome 17
Polyuria, Bone spicule pigmentation of the retina, Hyposmia, Anosmia, Renal cyst, Cone/cone-rod d... OMIM:615994
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro... OMIM:300578
17Q12 Microduplication Syndrome
Deeply set eye, Microphthalmia ORPHA:261272
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydranencephaly, Hydrocephalus, Microcornea, Retinal coloboma, Spina bi... ORPHA:2839
Deafness, X-Linked 7
Unilateral microphthalmos, Wide nasal bridge OMIM:301018
Microphthalmia, Syndromic 6
Brachycephaly, Plagiocephaly, Microphthalmia, Lambdoidal craniosynostosis, Retinal dystrophy, Ano... OMIM:607932
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Corneal o... OMIM:608940
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Anteverted nares, Biparietal narrowing, Abnormality of retinal pigmentation, Wide ... ORPHA:2518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Hydrocephalus, Coloboma, Retinal a... OMIM:253280
Moebius Syndrome
Microphthalmia, Abnormal nasopharynx morphology, Hypertelorism, Micropenis, Depressed nasal bridge OMIM:157900
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder, Retinal flecks, Pigmentary retinopathy, Yellow/white lesio... ORPHA:100996
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Multiple Benign Circumferential Skin Creases On Limbs
Irregular hyperpigmentation, Microphthalmia, Hypospadias, Microcornea, Retinopathy ORPHA:2505
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bifida, Abnormal occipital bon... ORPHA:63259
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Pigmentary retinopathy ORPHA:370968
Heart And Brain Malformation Syndrome
Microphthalmia, Prominent occiput, Anteverted nares, Hypertelorism, Wide nasal bridge, Depressed ... OMIM:616920
Acrofrontofacionasal Dysostosis 1
Brachycephaly, Optic atrophy, Microphthalmia, Iris atrophy, Hypertelorism, Wide nasal bridge OMIM:201180
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid... OMIM:268315
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Proteinuria, Stage 5 chronic kidney disease, Retinal pigment epith... OMIM:219900
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Anteverted nares, Microcornea, Hydronephrosis, Cataract, Hypertelorism OMIM:616449
Neurocutaneous Melanocytosis
Meningocele, Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Gene... ORPHA:2481
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia, Microcornea, Coloboma, Vesicoureteral reflux, Chorioretina... ORPHA:959
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Hypopigmented skin patches, Abnormality of retinal pigmentation, Proteinuria, Abno... ORPHA:2715
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Hydrocephalus, Anteverted nares,... OMIM:270400