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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
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Anosmia, Hypot... OMIM:147250
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Hypertelorism, Alobar holoprosencephal... OMIM:609637
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Hypotelorism, Hydroneph... 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
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... ORPHA:324416
Proboscis Lateralis
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Proboscis, Hypertelorism, Choanal atresia,... ORPHA:141099
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Anophthalmia, Anteverted nares, Optic nerve hypoplasia, Proboscis... OMIM:605627
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Holoprosencephaly 2
Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Proboscis, Alobar holoprosenc... OMIM:157170
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Holoprosencephaly 1
Proboscis, Alobar holoprosencephaly, Hypotelorism, Micropenis, Aplasia of the nose, Microphthalmi... OMIM:236100
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency, Hypertelorism, Proptosis, Holoprosencephaly, Cyclopia ORPHA:2165
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Acalvaria
Spina bifida, Hypertelorism, Hydrocephalus, Holoprosencephaly, Calvarial skull defect ORPHA:945
Pyknoachondrogenesis
Stillbirth OMIM:265880
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Prominent nose, Optic atrophy, Microcornea, Proptos... OMIM:616171
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Choanal atresia, Spina bifida, Hypertelorism, Anen... ORPHA:3380
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Microphthalmia, Syndromic 12
Anophthalmia, Broad nasal tip, Wide nasal bridge, Neonatal death, Microphthalmia OMIM:615524
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Abnormal calvaria morphology, Corneal opacity ORPHA:2432
Hartsfield Syndrome
Encephalocele, Depressed nasal bridge, Craniosynostosis, Hypertelorism, Lobar holoprosencephaly, ... ORPHA:2117
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Coloboma, Microph... OMIM:610125
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, H... ORPHA:280200
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Distal Deletion 13Q
Encephalocele, Hypertelorism, Optic atrophy, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia a... ORPHA:1590
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Absent nares, Holoprosencephaly, Cycl... ORPHA:990
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Flat occiput, Depressed nasal ridge, Hypotelorism, Deeply set ... ORPHA:2162
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... ORPHA:139471
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Depressed nasal ridge, Polycystic kidney dy... OMIM:613885
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Hydrocephalus, Holoprosencephaly, M... ORPHA:77298
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Holoprosencephaly 14
Frontal bossing, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hydr... OMIM:619895
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Renal hypoplasia, Hypotelorism, Micropenis, Holoprosencephaly, Micr... OMIM:264480
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Retinal dysplasia OMIM:614830
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Iris coloboma ORPHA:1104
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, O... ORPHA:1528
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Anencephaly 2
Anophthalmia, Anencephaly, Bifid nose OMIM:619452
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Brachycephaly ORPHA:2528
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... ORPHA:899
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Hypotelorism, Hypoplastic nasal septum, Holoprosencephaly... OMIM:610828
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Trisomy 13
Anophthalmia, Cataract, Displacement of the urethral meatus, Abnormal retinal vascular morphology... ORPHA:3378
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Craniosynostosis, Brachycephaly, Hypotelorism, Plagiocephaly... ORPHA:2163
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Hydrocephalus, Hypotelorism, Absent nares, Holop... ORPHA:2166
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Hypertelorism, Brachycephaly, Plagiocephaly, Dolichocephaly, Micropenis OMIM:615433
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Abnormal nasal morphology, Optic atrophy, Wide nas... ORPHA:1466
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Hypotelorism, Microphthalmia OMIM:218670
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Triploidy
Hypoplasia of penis, Cataract, Hypospadias, Hypertelorism, Hydrocephalus, Meningocele, Holoprosen... ORPHA:3376
Frontofacionasal Dysplasia
Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Hypertelorism, Brushfield spots... ORPHA:1791
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Distal Monosomy 7Q36
Hypoplasia of penis, Bulbous nose, Optic atrophy, Abnormal calvaria morphology, Holoprosencephaly ORPHA:1636
Cat-Eye Syndrome
Hypertelorism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hydronephrosis ORPHA:195
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Abnormality ... ORPHA:250999
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Muscle-Eye-Brain Disease
Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Optic atrophy, Coloboma OMIM:274270
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Hypertelorism, Broad nasal tip, Hypote... OMIM:612530
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Ectopic kidney, Neonatal death, Microphthalmia, Cystic renal dysplasia OMIM:613730
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Hypospadias, Coloboma ORPHA:141333
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract ORPHA:363741
Gombo Syndrome
Microphthalmia OMIM:233270
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Ring Chromosome 14 Syndrome
Flat occiput, Anteverted nares, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Pig... OMIM:616606
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypotelorism, Aplasia of the nose, Holoprosencephaly, Microphthalmia, Cyclopia, Iris coloboma ORPHA:3186
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Flat occiput, Anteverted nares, Chorioretinal dysplasia, Depressed nasal brid... OMIM:152950
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Holoprosencephaly 11
Proptosis, Holoprosencephaly, Hypotelorism OMIM:614226
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria 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
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
2Q24 Microdeletion Syndrome
Cataract, Hypertelorism, Abnormality iris morphology, Coloboma, Microphthalmia ORPHA:1617
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Proptosi... ORPHA:93274
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Lambotte Syndrome
Ocular anterior segment dysgenesis, Semilobar holoprosencephaly, Convex nasal ridge, Hypertelorism OMIM:245552
Temtamy Syndrome
Convex nasal ridge, Hypertelorism, Chorioretinal coloboma, Dolichocephaly, Microphthalmia, Iris c... ORPHA:1777
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
16P13.11 Microdeletion Syndrome
Anteverted nares, Depressed nasal bridge, Holoprosencephaly, Cyclopia, Short nose ORPHA:261236
Jacobsen Syndrome
Flat occiput, Anteverted nares, Depressed nasal bridge, Hypospadias, Hypertelorism, Hydrocephalus... OMIM:147791
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Depressed nasal bridge, Hypertelorism, Optic atrophy, Brachycephaly, Wide nasal ... OMIM:264470
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia, Hypertelorism, Brachycephaly, Abnormal nostril morphology ORPHA:66625
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Bulbous nose ORPHA:411986
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Frontal bossing, Cataract, Anteverted nares, Depressed na... OMIM:614105
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Prominent nasal bridge, Hypertelorism, Sclerocornea, Hydrocepha... OMIM:243605
Bresek Syndrome
Optic nerve hypoplasia, Convex nasal ridge, Hydrocephalus, Vesicoureteral reflux, Renal hypoplasi... ORPHA:85284
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Nance-Horan Syndrome
Retinal detachment, Cataract, Prominent nasal bridge, Prominent nose, Microcornea, Microphthalmia ORPHA:627
Monosomy 18P
Microphthalmia, Holoprosencephaly, Wide nasal bridge, Brachycephaly ORPHA:1598
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Coloboma, Renal hypoplasia OMIM:615665
Steinfeld Syndrome
Retinal coloboma, Holoprosencephaly, Aplasia of the nose, Microphthalmia, Iris coloboma OMIM:184705
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Monosomy 13Q14
Cataract, Prominent nasal bridge, Hypertelorism, Retinoblastoma, Wide nasal bridge, Holoprosencep... ORPHA:1587
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Frontonasal Dysplasia 1
Cataract, Hypertelorism, Broad nasal tip, Bifid nasal tip, Anterior basal encephalocele, Wide nas... OMIM:136760
Trisomy 1Q
Frontal bossing, Wide nose, Anophthalmia, Depressed nasal bridge, Multicystic kidney dysplasia, H... ORPHA:261344
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Aplasia of the nose, Cyc... OMIM:301043
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Optic atrophy, Holoprosencephaly, Ret... OMIM:253800
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hypertelorism, Hydrocephalus, Meningocele, Anencephaly, Wide nasal bridge, Spinal ... ORPHA:1908
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... ORPHA:3156
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Hypertelorism, Abnormality of the sense o... ORPHA:1135
Warburg Micro Syndrome 1
Anteverted nares, Optic atrophy, Wide nasal bridge, Developmental cataract, Microcornea, Deeply s... OMIM:600118
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Microphthalmia, O... OMIM:615145
Cerebrooculofacioskeletal Syndrome 2
Cataract, Prominent nose, Developmental cataract, Deeply set eye, Microphthalmia, Micropenis, Con... OMIM:610756
Hydrolethalus
Anophthalmia, Hydrocephalus, Anencephaly, Abnormality of the sense of smell, Deeply set eye, Micr... ORPHA:2189
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Frontal bossing, Cataract, Anteverted nares, Depressed nasal bridge, Hypertel... ORPHA:163649
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Pierpont Syndrome
Wide nose, Hypertelorism, Broad nasal tip, Brachycephaly, Micropenis, Microcornea, Deeply set eye... OMIM:602342
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Coloboma, Microphthalmia OMIM:613153
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Abnormal chorior... ORPHA:564
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Prominent occiput, Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Micro... OMIM:615877
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus, Retinal dystrophy, Developmental cataract OMIM:613155
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Depressed nasal bridge, Hypertelorism, Optic atrophy, Brachycephaly, Abnormality of ski... OMIM:612379
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Anteverted nares... ORPHA:791
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Cloverleaf skull, Cataract, Hypertelorism, Wide nasal bridge, Platybasia, Microp... ORPHA:93267
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Chromosome 13Q14 Deletion Syndrome
Frontal bossing, Bulbous nose, Retinoblastoma, Hypotelorism, Holoprosencephaly, Chorioretinal col... OMIM:613884
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... OMIM:204000
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, B... OMIM:221900
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc mo... ORPHA:65
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Coloboma, Holoprosencephaly, Anterior encephalocele OMIM:601357
Holoprosencephaly 4
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Hypotelorism, Semilob... OMIM:142946
Oculotrichoanal Syndrome
Bifid nasal tip, Microphthalmia, Anophthalmia, Hypertelorism ORPHA:2717
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Pierpont Syndrome
Wide nasal ridge, Hypertelorism, Brachycephaly, Microcornea, Deeply set eye, Microphthalmia ORPHA:487825
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Hypoplasia of penis, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Deeply set eye, Holoprosencephaly ORPHA:2570
Meckel Syndrome 14
Occipital encephalocele, Anteverted nares, Hypertelorism, Decreased calvarial ossification, Holop... OMIM:619879
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... ORPHA:2196
Adams-Oliver Syndrome 2
Depressed nasal bridge, Hypertelorism, Bulbous nose, Hydrocephalus, Optic atrophy, Developmental ... OMIM:614219
Temtamy Syndrome
Frontal bossing, Convex nasal ridge, Hypertelorism, Lens luxation, Ectopia lentis, Chorioretinal ... OMIM:218340
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Depressed nasal bridge, Anteverted nares, Hypertelorism, Underdev... ORPHA:228390
Semilobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Neural tube defect, ... ORPHA:220386
Alobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Neural tube defect, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Neural tube defect, ... ORPHA:93926
Lobar Holoprosencephaly
Proboscis, Hydrocephalus, Depressed nasal ridge, Single naris, Hypotelorism, Neural tube defect, ... ORPHA:93924
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Hydrocephalus, Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Frontal bossing, Corneal opacity, Abnormal vitreous humor morphology, Exudati... ORPHA:2788
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal nostril morphology, Hypotelorism ORPHA:3469
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, Single naris, Anosmia, Absent nares, Hyposmia, Micro... ORPHA:2250
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hydrocephalus, Single naris, Hypote... OMIM:610829
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, ... OMIM:617306
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Abnormal vitreous humor morphology, Plagiocephaly, Abnormal opti... ORPHA:1101
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy OMIM:617255
Warburg Micro Syndrome 2
Cataract, Prominent nasal bridge, Optic atrophy, Brachycephaly, Micropenis, Microcornea, Deeply s... OMIM:614225
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Hypertelorism, Brachycephaly, Wide nasal bridge, Microphthalmia OMIM:613456
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Broad nasal tip, Bifid nasal tip, Hypertelorism, Microphthalmia OMIM:248450
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Abnormality of retinal pigmentation ORPHA:858
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Optic atrophy, Brachycephaly, Developmental cataract, M... OMIM:615663
Ring Chromosome 21 Syndrome
Multiple cafe-au-lait spots, Holoprosencephaly ORPHA:1445
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Microphthalmia, Syndromic 3
Optic nerve aplasia, Frontal bossing, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Scleroco... OMIM:206900
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Micropenis, Frontal bossing, Retinal degeneration ORPHA:3363
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis, Semilobar holoprosencephaly OMIM:601370
49,Xxxxy Syndrome
Wide nose, Hypoplasia of penis, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge, Bra... ORPHA:96264
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Optic atrophy, Megalopapilla... OMIM:615636
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Depressed nasal bridge, Hypertelorism OMIM:602501
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Coloboma, Dolichocephaly, Microphthalmi... OMIM:167730
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Hypertelorism, Microphthalmia, Iris... ORPHA:85194
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Anteverted nares, Optic atrop... ORPHA:2510
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Joubert Syndrome 28
Optic disc pallor, Wide nasal bridge, Pigmentary retinopathy, Hypertelorism OMIM:617121
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Frontal bossing, Cataract, Hypertelorism, Bulbous nose, Wide nasal bridge, Astigmatism, Retinal c... OMIM:618571
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Coloboma, Low hanging colu... OMIM:619318
Baraitser-Winter Syndrome 1
Anteverted nares, Hypertelorism, Wide nasal bridge, Micropenis, Chorioretinal coloboma, Midface r... OMIM:243310
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Cataract, Anteverted nares, Astigmatism, Microphthalmia OMIM:619694
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short nose, Optic disc pallor, Hypertelorism OMIM:300887
Otodental Syndrome
Cataract, Anteverted nares, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris co... ORPHA:2791
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Cataract, Corneal opacity, Hypertelorism, Bilateral microphthalmos, Recurrent upper re... ORPHA:2399
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt... ORPHA:370959
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Endocrine-Cerebroosteodysplasia
Hypospadias, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Hypotelorism, Deeply set eye,... OMIM:612651
Joubert Syndrome 37
Frontal bossing, Wide nose, Anteverted nares, Hypertelorism, Wide nasal bridge, Deeply set eye, M... OMIM:619185
Cockayne Syndrome Type 1
Renal insufficiency, Anophthalmia, Proteinuria, Hypermelanotic macule, Cataract, Optic atrophy, P... ORPHA:90321
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Abnormality of skin pi... ORPHA:2556
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Multicystic kidney dysplasia, Catar... ORPHA:3301
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Anteverted nares, Optic atrophy, Wide nasal bridge... ORPHA:44
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Mulibrey Nanism
Frontal bossing, Wide nose, Depressed nasal bridge, Corneal dystrophy, Hypertelorism, Wide nasal ... OMIM:253250
Pallister-Hall Syndrome
Hydroureter, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ectopic kidney, Distal ur... OMIM:146510
Joubert Syndrome 14
Encephalocele, Prominent nasal bridge, Morning glory anomaly, Hypertelorism, Hydrocephalus, Menin... OMIM:614424
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Curry-Jones Syndrome
Craniosynostosis, Hypertelorism, Optic disc coloboma, Hypopigmented skin patches, Microphthalmia,... ORPHA:1553
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... ORPHA:290
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Depressed nasal bridge, Flared nostrils, Microphthalmia, Short nose OMIM:206920
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Abnormal optic nerve... ORPHA:3412
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Hypospadias, Optic atrophy, Astigmatism, Chor... ORPHA:494344
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Hypertelorism, Optic atrophy, Ureteral atresia, Hy... ORPHA:1493
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... OMIM:613451
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Mosaic Variegated Aneuploidy Syndrome
Frontal bossing, Wide nose, Multicystic kidney dysplasia, Corneal opacity, Cataract, Depressed na... ORPHA:1052
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I... OMIM:169550
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Hypoplasia of penis, Hydroureter, Microphthalmia, Short nose ORPHA:2547
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Hypertelorism, Wide nasal bridge, Brachycephaly, Hypotelorism, Lobar holoprosen... OMIM:614701
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Diprosopus
Abnormality of retinal pigmentation, Anencephaly, Abnormality of the nose ORPHA:1681
Seckel Syndrome 2
Few cafe-au-lait spots, Hypospadias, Ectopic kidney, Prominent nose, Microphthalmia OMIM:606744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Retinal detachment, Frontal bossing, Cataract, Remnants of the hyaloid vascular sy... OMIM:614643
Neurooculocardiogenitourinary Syndrome
Prominent nasal bridge, Hypertelorism, Coloboma, Peters anomaly, Microphthalmia OMIM:618652
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Prominent nasal bridge, Abnormal occipita... ORPHA:468631
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... OMIM:609049
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Macular dege... ORPHA:816
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Matthew-Wood Syndrome
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia ORPHA:2470
Cockayne Syndrome Type 2
Anophthalmia, Conjunctivitis, Hypermelanotic macule, Developmental cataract ORPHA:90322
Kapur-Toriello Syndrome
Hypoplasia of penis, Bulbous nose, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2328
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Optic nerve hypoplasia, Choanal atresia, Bilateral microphthalmos, Depressed nas... OMIM:607597
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Frontofacionasal Dysplasia
Cataract, Hypertelorism, Underdeveloped nasal alae, Brachycephaly, Microcornea, Midline defect of... OMIM:229400
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis, ... ORPHA:1390
Baraitser-Winter Syndrome 2
Trigonocephaly, Microphthalmia, Coloboma, 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
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Isolated Exencephaly
Depressed nasal bridge, Abnormal calvaria morphology, Proptosis, Holoprosencephaly, Hypoplasia of... ORPHA:563612
Warburg Micro Syndrome 3
Cataract, Optic atrophy, Brachycephaly, Micropenis, Microcornea, Developmental cataract, Shallow ... OMIM:614222
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation, Calvarial skull defect ORPHA:1117
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Hypoplasia of penis, Anteverted nares, Choanal atresia, Multicystic kid... ORPHA:818
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Agnathia-Otocephaly Complex
Wide nose, Holoprosencephaly OMIM:202650
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Hypertelorism, Underdeveloped nasal alae, Brachycephaly, Renal... ORPHA:264200
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Prominent occiput, Popliteal pterygium, Microphthalmia, A... OMIM:619339
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Anosmia, Microphthalmia, Reti... ORPHA:773
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Prominent nasal bridge, Ectopia lentis, Bifid nasal tip, Microcorne... ORPHA:2712
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Hypotelorism, Prominent occiput, Holoprosencephaly, Semilobar ... ORPHA:556955
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Anteverted nares, Depressed nasal bridge, Corneal ... ORPHA:585
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of skin pigmentation,... ORPHA:1806
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract ORPHA:48431
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Hartsfield Syndrome
Wide nose, Hypospadias, Craniosynostosis, Hypertelorism, Alobar holoprosencephaly, Hypotelorism, ... OMIM:615465
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Stevenson-Carey Syndrome
Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Coloboma, Microphthalmia, Prominent n... OMIM:611961
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Microphthalmia OMIM:614082
Fraser Syndrome 1
Encephalocele, Wide nose, Cleft ala nasi, Anophthalmia, Depressed nasal bridge, Hypospadias, Hype... OMIM:219000
Joubert Syndrome 2
Encephalocele, Frontal bossing, Renal insufficiency, Retinal dystrophy, Depressed nasal bridge, H... OMIM:608091
Kapur-Toriello Syndrome
Cataract, Bulbous nose, Retinal coloboma, Microphthalmia, Micropenis, Iris coloboma, Low hanging ... OMIM:244300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Hydrocephalus, Depressed nasal ridge, Microphthalmia, Short nose OMIM:300863
8Q21.11 Microdeletion Syndrome
Wide nose, Hypoplasia of penis, Corneal opacity, Cataract, Sclerocornea, Hypertelorism, Underdeve... ORPHA:284160
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Wide nasal bridge, Renal hypoplasia, Horseshoe kidney, Ne... OMIM:601186
Charge Syndrome
Anophthalmia, Depressed nasal bridge, Choanal atresia, Hypertelorism, Aqueductal stenosis, Optic ... ORPHA:138
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Pigmentary r... OMIM:614230
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia, Micropenis OMIM:308350
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine OMIM:266130
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Cataract OMIM:614307
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation, Turricephaly, Craniosynostosis ORPHA:1496
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Rodrigues Blindness
Narrow nasal bridge, Microphthalmia, Microcornea, Sclerocornea OMIM:268320
Arachnoid Cyst
Encephalocele, Urinary incontinence, Abnormal occipital bone morphology, Hydrocephalus, Holoprose... ORPHA:2356
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Deeply set eye, Keratoglobus, Astigmatism, Reti... OMIM:108145
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dys... OMIM:615986
Ring Chromosome 10 Syndrome
Microphthalmia, Frontal bossing, Wide nasal bridge, Hypertelorism ORPHA:1438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Occipital encephalocele, Retinal atrophy, Corneal opacity, Optic nerve hypopl... OMIM:236670
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Abnormal nasal morphology, Biparietal narro... ORPHA:578
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Prominent nose, Ectopia lentis, Sphero... OMIM:601552
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Hypospadias, Brachycephaly, Wide nasal bridge, Hypotelo... ORPHA:1449
Short-Rib Thoracic Dysplasia 12
Hypertelorism, Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Neonatal death, C... OMIM:269860
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Developmental cataract, Microcornea, Posterior Y-sutural ... OMIM:302350
Osteopetrosis, Autosomal Recessive 8
Frontal bossing, Optic atrophy, Unilateral microphthalmos OMIM:615085
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Flat occiput, Proteinuria, Cataract, Narrow nas... OMIM:251300
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Depressed nasal bridge, Hypertelorism, Hydrocephalus, Brachycephaly, Pigmentary ... OMIM:612582
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
3Q29 Microduplication Syndrome
Cataract, Craniosynostosis, Sclerocornea, Wide nasal bridge, Biparietal narrowing, Aniridia, Micr... ORPHA:251038
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Cerebrooculofacioskeletal Syndrome 1
Cataract, Prominent nasal bridge, Prominent nose, Deeply set eye, Microphthalmia OMIM:214150
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Urinary incontinence, Optic atrophy, Pigmentar... OMIM:609033
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Mycophenolate Mofetil Embryopathy
Hypertelorism, Ectopic kidney, Hydrocephalus, Bifid nose, Chorioretinal coloboma, Microphthalmia,... ORPHA:268249
Premature Aging Syndrome, Penttinen Type
Frontal bossing, Aplasia of the nasal bone, Corneal opacity, Prominent nasal bridge, Convex nasal... OMIM:601812
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Microphthalmia OMIM:609054
Frontorhiny
Encephalocele, Cataract, Hypertelorism, Midline nasal groove, Basal encephalocele, Cranium bifidu... ORPHA:391474
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia OMIM:600151
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Hypertelorism, Bulbous nose, Bilateral microphthalmos, Brachycephaly, Wid... ORPHA:369891
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Hypospadias, Acrania, Hypertelorism, Micropenis, Chordee, Astigmatism,... OMIM:618820
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Cataract, Optic disc hypoplasia, Choanal atresia, Hypertelorism,... OMIM:607323
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Hydrocephalus, Depressed nasal ridge, Microphthalmia, Short nose ORPHA:163966
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology ORPHA:3019
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Bulbous nose, Renal hypoplasia, Hydronephrosis, Deeply set eye, Microp... OMIM:618494
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia, Hypotelorism OMIM:619053
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Hypotelorism, Trigonocephaly, Microphthalmia OMIM:616395
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Microphthalmia OMIM:611134
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the... OMIM:253280
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t... ORPHA:1134
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly, Renal cyst OMIM:611561
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, Microphthalmia OMIM:617883
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Laurence-Moon Syndrome
Pigmentary retinopathy, Micropenis, Chorioretinal atrophy OMIM:245800
Oculodentodigital Dysplasia, Autosomal Recessive
Frontal bossing, Cataract, Underdeveloped nasal alae, Long nose, Brachycephaly, Microcornea, Deep... OMIM:257850
Focal Dermal Hypoplasia
Narrow nasal bridge, Ureteral duplication, Linear hyperpigmentation, Anophthalmia, Cleft ala nasi... OMIM:305600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Wide nasal bridge, Ectopia pupillae, Astigmatism, Microphthalmia, Thick ... OMIM:618727
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Prominent nasal bridge... OMIM:300166
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Cataract, Optic disc coloboma, Hydronephrosis, Microcornea, Chorioretin... ORPHA:568
Sandestig-Stefanova Syndrome
Wide nasal bridge, Developmental cataract, Trigonocephaly, Microphthalmia, Convex nasal ridge OMIM:618804
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis, Abnormal anterior chamber morphology ORPHA:93323
Peroxisome Biogenesis Disorder 2A (Zellweger)
Turricephaly, Cataract, Hypertelorism, Brushfield spots, Optic nerve dysplasia, Pigmentary retino... OMIM:214110
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
1Q21.1 Microdeletion Syndrome
Frontal bossing, Cataract, Bulbous nose, Hydrocephalus, Wide nasal bridge, Hydronephrosis, Deeply... ORPHA:250989
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Microtia-Anotia
Holoprosencephaly OMIM:600674
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Sclerocornea, Brachycephaly, Renal hypoplasia, Plagiocephaly, Co... OMIM:607932
Xeroderma Pigmentosum, Complementation Group B
Cataract, Freckling, Optic atrophy, Pigmentary retinopathy, Microphthalmia OMIM:610651
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Brachycephaly ORPHA:1173
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Hydrocephalus, Pigmentary retinopathy, Chordee, Peters anoma... OMIM:309801
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Linear Nevus Sebaceus Syndrome
Frontal bossing, Melanocytic nevus, Prominent occiput, Plagiocephaly, Biparietal narrowing, Micro... ORPHA:2612
Jeune Syndrome
Abnormality of retinal pigmentation, Nephropathy, Renal insufficiency, Nephronophthisis ORPHA:474
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Braddock-Carey Syndrome 2
Microphthalmia, Bulbous nose OMIM:619981
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Short nose OMIM:234050
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Mi... OMIM:613001
Halperin-Birk Syndrome
Developmental cataract, Optic atrophy, Semilobar holoprosencephaly OMIM:618651
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Cataract, Depressed nasal bridge, Hypertelorism, Microcornea, Microphthalmia, Hy... ORPHA:35173
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract ORPHA:3085
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Juvenile Paget Disease
Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Melanocytic nevus ORPHA:2801
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus, Micropenis OMIM:602361
Charge Syndrome
Anophthalmia, Cataract, Choanal atresia, Hypertelorism, Anosmia, Unilateral microphthalmos, Horse... OMIM:214800
Joubert Syndrome 3
Anteverted nares, Retinal dystrophy, Wide nasal bridge, Stage 5 chronic kidney disease, Pigmentar... OMIM:608629
Hallermann-Streiff Syndrome
Frontal bossing, Cataract, Prominent nasal bridge, Spina bifida, Underdeveloped nasal alae, Optic... OMIM:234100
Fraser Syndrome
Encephalocele, Hypoplasia of penis, Cleft ala nasi, Anophthalmia, Depressed nasal bridge, Multicy... ORPHA:2052
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Hypospadias, Choanal atresia, Hypertelorism, Penoscrotal transposition, Anencephal... OMIM:619148
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Deeply set eye, Peters anomaly OMIM:614526
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Anos... OMIM:615994
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Lobar holoprosencephaly, Prominent occiput, Hypotelorism, Neonatal death,... OMIM:618500
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Renal cyst, Microphthalmia OMIM:603194
Ritscher-Schinzel Syndrome 3
Microphthalmia, Anteverted nares, Chorioretinal coloboma, Hypertelorism OMIM:619135
Cln3 Disease
Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Urinary bladder sphincte... ORPHA:228346
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Depressed nasal bridge, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply s... OMIM:620098
17Q12 Microduplication Syndrome
Microphthalmia, Deeply set eye ORPHA:261272
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Hydronephrosis, Microcornea, Retinal colob... ORPHA:2839
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Optic atrophy, Wide nasal bridge, Bipariet... ORPHA:2518
Deafness, X-Linked 7
Wide nasal bridge, Unilateral microphthalmos OMIM:301018
Iniencephaly
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina, Functional abnormalit... ORPHA:100996
Moebius Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Hypertelorism, Microphthalmia, Micropenis OMIM:157900
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Multicystic kidney dysplasia, Anophthalmia, Horseshoe kidney, Plagiocephaly, Mic... ORPHA:2538
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Microtia
Holoprosencephaly ORPHA:83463
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microcornea, Microphthalmia, Irregular hyperpigmentation, Retinopathy ORPHA:2505
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Micropenis ORPHA:370968
Heart And Brain Malformation Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Prominent occiput, Mi... OMIM:616920
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Corneal crystal... OMIM:219900
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Hypertelorism, Optic disc coloboma, Horseshoe kidney, Microcorne... ORPHA:959
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Anteverted nares, Hypospadias, Hypertelorism, Microcornea, Microphthalmia, Hydronephrosis OMIM:616449
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Hypertelorism, Optic atrophy, Wide nasal bridge, Brachycephaly, Microphthalmia OMIM:201180
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Cataract, Depressed nasal bridge, Anteverted nares, Unilatera... OMIM:270400
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Proteinuria, Abnormal retinal... ORPHA:2715
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Retinitis, Epispadias, Optic disc coloboma, Unilateral renal hypoplasia,... OMIM:615948
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypospadias, Choanal atresia, Hypertelorism, Anosmia, Coloboma, Aplasia of the nose, Mi... OMIM:603457
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Renal hypoplasia, Horseshoe kidney, Astigmatism, Vesicoureteral reflux, M... OMIM:609053
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Deeply set eye OMIM:619059
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Frontal bossing, Depressed nasal bridge, Deeply set eye, Microphthalmia, Micropenis, Convex nasal... OMIM:241410
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Cockayne Syndrome Type 3
Premature graying of hair, Deeply set eye, Microcornea, Lentiglobus, Retinal degeneration, Retina... ORPHA:90324
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Hydroureter, Choanal atresia, Hypertelorism, Broad nasal tip, Bl... OMIM:129900
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Pelvic kidney OMIM:617244
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Frontal bossing, Proteinuria, Hypertelorism, Stage 5 chronic kidney ... OMIM:617729
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Spina bifida, Hypertelorism, Bulbous nose, Horseshoe kidney... ORPHA:99776
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re... OMIM:617023
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Retinal pigment epithelial mottling, Wide nasal bridge, Dolichocephaly, M... OMIM:617102
Branchiooculofacial Syndrome
Anophthalmia, Depressed nasal bridge, Hypospadias, Cataract, Hypertelorism, Broad nasal tip, Rena... OMIM:113620
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Hypertelorism, Brachycephaly, Microcornea, Microphthalmia OMIM:156610
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Cerebrooculofacioskeletal Syndrome 4
Prominent nasal bridge, Deeply set eye, Bilateral microphthalmos, Abnormal retinal morphology OMIM:610758
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Renal hypoplasia OMIM:618914
Microphthalmia With Limb Anomalies
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Optic atrophy, Horseshoe kidney, Micropht... ORPHA:1106
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Prominent nasal bridge, Hypertelorism, Underdeveloped nasal alae, Bulbous nose, ... ORPHA:364577
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Prominent nasal bridge, Horseshoe kidney, Abnormality of skin pigmentation... ORPHA:65286
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Alagille Syndrome 1
Long nose, Multiple small medullary renal cysts, Microcornea, Deeply set eye, Vesicoureteral refl... OMIM:118450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Depressed nasal bridge, Anteverted nares, Abnormal nasal morphology, Wide nasal bridge, Brachycep... ORPHA:404440
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia OMIM:617914
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Cataract, Optic atrophy, Pigmentary retinopathy, Hydronephrosis OMIM:222300
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Myoclonic-Astatic Epilepsy
Microphthalmia, Thick nasal alae, Anteverted nares, Wide nasal bridge ORPHA:1942
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Aqueductal stenosis, Neonatal death, Microphthalmia, Convex nasal ridge OMIM:251230
Atelis Syndrome 2
Frontal bossing, Remnants of the hyaloid vascular system, Prominent nose, Bulbous nose, Developme... OMIM:620185
Cousin Syndrome
Frontal bossing, Hypertelorism, Hydrocephalus, Microcornea, Deeply set eye, Hydranencephaly, Micr... OMIM:260660
Teebi-Shaltout Syndrome
Turricephaly, Ureteral stenosis, Broad nasal tip, Hypertelorism, Underdeveloped nasal alae, Scaph... OMIM:272950
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract OMIM:268020
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism, Wide nasal bridge ORPHA:1352
Focal Dermal Hypoplasia
Narrow nasal bridge, Multicystic kidney dysplasia, Corneal opacity, Spina bifida, Ectopia lentis,... ORPHA:2092
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Anteverted nares, Choanal atresia, Hypospadias, Hypertelorism, Bulbous nose, Opt... OMIM:616975
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Wide nose, Frontal bossing, Anteverted nares, Depressed nasa... ORPHA:192
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Desmoid Tumor
Abnormality of retinal pigmentation, Hydronephrosis ORPHA:873
Marden-Walker Syndrome
Anteverted nares, Hypospadias, Hypertelorism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:248700
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Anteverted nares ORPHA:3191
Pallister-Hall Syndrome
Anteverted nares, Choanal atresia, Unilateral renal agenesis, Hypertelorism, Ectopic kidney, Hypo... ORPHA:672
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Congenital Fibrinogen Deficiency
Microphthalmia, Micropenis, Developmental cataract ORPHA:335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cataract, Peters anomaly, Hydrocephalus, Buphthalmos, Persistent pupillary membran... OMIM:613150
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Norrie Disease
Narrow nasal bridge, Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal m... ORPHA:649
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae... OMIM:613154
Cockayne Syndrome B
Slender nose, Renal insufficiency, Proteinuria, Prominent nasal bridge, Optic atrophy, Developmen... OMIM:133540
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Prominent nasal bridge, Optic atrop... ORPHA:193
Martsolf Syndrome 1
Cataract, Depressed nasal bridge, Broad nasal tip, Brachycephaly, Developmental cataract, Microph... OMIM:212720
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Cockayne Syndrome
Urinary incontinence, Deeply set eye, Retinal arteriolar constriction, Lentiglobus, Retinal degen... ORPHA:191
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hypertelorism, Hydrocephalus, Wide nasal bridge, Renal hypoplasia, Dep... OMIM:614083
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bifid nasal tip, Unilateral microphthalmos, Cafe-au-lait spot, Iris coloboma OMIM:618874
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Prominent nose, Hypertelorism, Renal hypoplasia, Renal cyst, Stillbirth, Microphth... OMIM:616300
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Hypotelorism, Deeply set eye, Short nose, Midface retrusion, N... OMIM:301044
Mend Syndrome
Cataract, Prominent nasal bridge, Hypertelorism, Hydrocephalus, Spotty hypopigmentation, Abnormal... ORPHA:401973
Basal Cell Nevus Syndrome 1
Frontal bossing, Cataract, Spina bifida, Hypertelorism, Hydrocephalus, Wide nasal bridge, Microph... OMIM:109400
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Prolidase Deficiency
Abnormality of retinal pigmentation, Depressed nasal bridge, Hypertelorism, Depressed nasal ridge... ORPHA:742
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Adams-Oliver Syndrome
Encephalocele, Cataract, Hydrocephalus, Microphthalmia, Calvarial skull defect ORPHA:974
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Hypertelorism, Brachycephaly, Microphthalmia, Iris coloboma ORPHA:1236
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Momo Syndrome
Frontal bossing, Hypertelorism, Bilateral microphthalmos, Brachycephaly, Chorioretinal coloboma, ... ORPHA:2563
Fetal Alcohol Syndrome
Microphthalmia, Short nose, Anteverted nares, Biparietal narrowing ORPHA:1915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Micropenis OMIM:613156
Monosomy 9Q22.3
Cataract, Hydrocephalus, Trigonocephaly, Microphthalmia, Short nose, Retinopathy ORPHA:77301
Cat Eye Syndrome
Hypertelorism, Horseshoe kidney, Hydronephrosis, Chorioretinal coloboma, Vesicoureteral reflux, M... OMIM:115470
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Bifid nose, Cranium bifidu... ORPHA:306542
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Flat occiput, Anteverted nares, Hypospadias, Cataract, Hypertelorism, Brushfie... OMIM:214100
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Fryns Syndrome
Multicystic kidney dysplasia, Anteverted nares, Hypospadias, Corneal opacity, Hypertelorism, Wide... ORPHA:2059
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Phace Association
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic... OMIM:606519
2Q31.1 Microdeletion Syndrome
Hypertelorism, Bulbous nose, Optic disc coloboma, Coloboma, Proptosis, Trigonocephaly, Microphtha... ORPHA:251014
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Curry-Jones Syndrome
Occipital meningocele, Unicoronal synostosis, Lipomyelomeningocele, Microphthalmia, Iris coloboma... OMIM:601707
3P25.3 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nose, Brachycephaly, Microphthalmia ORPHA:435638
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urine, Hydrocephal... OMIM:309900
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Retinal vascula... ORPHA:464
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Basel-Vanagaite-Smirin-Yosef Syndrome
Anteverted nares, Hypospadias, Hypertelorism, Developmental cataract, Microcornea, Male urethral ... ORPHA:464738
Mosaic Trisomy 1
Frontal bossing, Depressed nasal bridge, Wide nasal bridge, Renal cyst, Renal cortical cysts, Opa... ORPHA:1692
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Pigmentary retinopathy... ORPHA:110
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Ohdo Syndrome, X-Linked
Depressed nasal bridge, Prominent nose, Hypertelorism, Bulbous nose, Wide nasal bridge, Microphth... OMIM:300895
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract ORPHA:88628
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy, Abnormality of globe size, Hypotelorism ORPHA:502423
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Depressed nasal ridge, Hypertelorism OMIM:600462
Treacher-Collins Syndrome
Encephalocele, Frontal bossing, Hypoplasia of penis, Cataract, Choanal atresia, Hypertelorism, Br... ORPHA:861
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,... OMIM:308300
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Cataract, Concave nasal ridge, Microphthalmia, Hydronephrosis OMIM:302960
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Choanal atresia, Urethral valve, ... OMIM:107480
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Frontal bossing, Cataract, Anteverted nares, Broad nasal tip... OMIM:272460
Khan-Khan-Katsanis Syndrome
Frontal bossing, Ureteral duplication, Renal hypoplasia, Renal cyst, Corneal scarring, Buphthalmo... OMIM:618460
Trichothiodystrophy 1, Photosensitive
Cataract, Freckling, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Short nose OMIM:601675
Dubowitz Syndrome
Hypospadias, Prominent nasal bridge, Broad nasal tip, Wide nasal bridge, Hypoplasia of the iris, ... OMIM:223370
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Depressed nasal bridge, Hypertelorism, Brachycephaly, Decreased calvarial ossifi... OMIM:617925
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic... ORPHA:42775
Oculodentodigital Dysplasia
Narrow nasal bridge, Neurogenic bladder, Cataract, Anteverted nares, Underdeveloped nasal alae, M... OMIM:164200
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Spina bifida, Wide nasal bridge, Renal hypoplasia, Horseshoe... ORPHA:508498
Rothmund-Thomson Syndrome, Type 2
Frontal bossing, Cataract, Depressed nasal bridge, Hypertelorism, Premature graying of hair, Micr... OMIM:268400
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Microphthalmia, Papilledema, Developmental cataract OMIM:127000
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia, Depressed nasal bridge, Wide nasal bridge OMIM:110100
Aicardi Syndrome
Retinal detachment, Cataract, Anteverted nares, Spina bifida, Chorioretinal lacunae, Optic disc c... OMIM:304050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Retinal hemorrhage, Dev... OMIM:175780
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Pigmentary retinopathy ORPHA:3208
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... OMIM:259770
Tetraamelia Syndrome 1
Cataract, Choanal atresia, Hydrocephalus, Single naris, Urethral atresia, Microphthalmia OMIM:273395
Histiocytoid Cardiomyopathy
Corneal opacity, Hydrocephalus, Optic atrophy, Renal cyst, Microphthalmia, Megalocornea, Congenit... ORPHA:137675
22Q11.2 Deletion Syndrome
Vesicoureteral reflux, Hypospadias, Spina bifida, Hypertelorism, Wide nasal bridge, Renal hypopla... ORPHA:567
Monosomy 9P
Ureteropelvic junction obstruction, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hy... ORPHA:261112
Roberts Syndrome
Cataract, Craniosynostosis, Hypertelorism, Underdeveloped nasal alae, Long penis, Brachycephaly, ... ORPHA:3103
Combined Pituitary Hormone Deficiencies, Genetic Forms
Holoprosencephaly, Septo-optic dysplasia, Depressed nasal ridge, Optic nerve hypoplasia ORPHA:95494
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Mottled pigmentation of photoexposed areas OMIM:560000
Fanconi Anemia, Complementation Group D2
Hypertelorism, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Hypotelorism, Abnormality of skin... OMIM:227646
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Anteverted nares, Depressed nasal bridge, Depressed nasal ri... ORPHA:175
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Depressed nasal bridge, Choanal atresia, Hypertelorism, Underdeveloped nasal alae, Dolichocephaly... OMIM:620186
Alstrom Syndrome
Cone/cone-rod dystrophy, Renal insufficiency, Pigmentary retinopathy, Hyperostosis frontalis inte... OMIM:203800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Keratoconjunctivitis, Nephrocalcinosis, Perifoveal ring of hyperautofluorescence, Pigme... OMIM:240300
Fanconi Anemia
Frontal bossing, Renal insufficiency, Hydroureter, Hypospadias, Choanal atresia, Spina bifida, Hy... ORPHA:84
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Astigmatism ORPHA:1824
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cataract ORPHA:79095
Cockayne Syndrome A
Slender nose, Renal insufficiency, Retinal atrophy, Proteinuria, Cataract, Prominent nose, Retina... OMIM:216400
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Coloboma, Shallow orbits, Hypospadias, Hypertelorism, Long penis, Wide nasal bridg... OMIM:268300
Trichothiodystrophy
Craniosynostosis, Hypertelorism, Bilateral microphthalmos, Hypotelorism, Microcornea, Macular deg... ORPHA:33364
Werner Syndrome
Abnormality of retinal pigmentation, Cataract, Premature graying of hair, White forelock, Convex ... ORPHA:902
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Pelvic kidney, Microphallus, Vesicoureteral reflux, Microphthalmia, Cafe-au-lai... OMIM:603467
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy OMIM:612291
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Hypospadias, Hypertelorism, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Ren... OMIM:614866
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Hydroureter, Optic disc coloboma, Renal hypoplasia, Microcornea, Cilia... OMIM:309800
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Anteverted nares, Melanocytic nevus, Midline defect of the n... ORPHA:1969
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Proteinuria, Multiple bladder diverticula ORPHA:2728
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Hydrocephal... ORPHA:505248
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypertelorism, Bilateral microphthalmos, Developmental cataract, Retinal calcification ORPHA:93325
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina... ORPHA:790
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity, Prominent nasal bridge, Hypertelorism, Underdeveloped nasal alae, Bulbous nose, ... OMIM:608670
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Peters anomaly, Brush... OMIM:619539
Oculocerebrorenal Syndrome Of Lowe
Flat occiput, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalci... ORPHA:534
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal bossing, Turricephaly, Cataract, Anteverted nares, Prominent nasal bridge, Depressed nasa... OMIM:612474
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Cataract, Thick nasal alae, Corneal opacity, Adenoiditis, Heparan sulf... ORPHA:581
Hallermann-Streiff Syndrome
Frontal bossing, Choanal atresia, Underdeveloped nasal alae, Brachycephaly, Developmental catarac... ORPHA:2108
Usher Syndrome
Abnormality of retinal pigmentation, Astigmatism, Cataract ORPHA:886
Fraser Syndrome 2
Wide nose, Unilateral renal agenesis, Underdeveloped nasal alae, Renal hypoplasia, Ureteral agene... OMIM:617666
Proteus Syndrome
Central heterochromia, Renal cyst, Abnormality of skin pigmentation, Chorioretinal coloboma, Thic... ORPHA:744
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Frontal bossing, Cataract, Depressed nasal bridge, Craniosynostosis, Scaphocephaly, Renal hypopla... OMIM:620005
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Hyperpigmented streaks, Sclerocornea OMIM:300952
Bartsocas-Papas Syndrome 1
Underdeveloped nasal alae, Ectopic kidney, Hypertelorism, Micropenis, Popliteal pterygium, Opacif... OMIM:263650
Renpenning Syndrome 1
Cataract, Hypospadias, Phimosis, Bulbous nose, Wide nasal bridge, Brachycephaly, Renal hypoplasia... OMIM:309500
Yunis-Varon Syndrome
Narrow nasal base, Cataract, Anteverted nares, Hypospadias, Sclerocornea, Abnormal occipital bone... ORPHA:3472
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... ORPHA:436271
Fanconi Anemia, Complementation Group E
Ectopic kidney, Horseshoe kidney, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:600901
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal ... ORPHA:91500
Fryns Syndrome
Ureteral duplication, Anteverted nares, Hypospadias, Hypertelorism, Wide nasal bridge, Renal cyst... OMIM:229850
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy... ORPHA:636
Neu-Laxova Syndrome 1
Wide nose, Cataract, Spina bifida, Hypertelorism, Depressed nasal ridge, Proptosis, Stillbirth, N... OMIM:256520
Fanconi Anemia, Complementation Group A
Ectopic kidney, Horseshoe kidney, Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait ... OMIM:227650
Fontaine Progeroid Syndrome
Turricephaly, Depressed nasal bridge, Craniosynostosis, Hypertelorism, Hydrocephalus, Brachycepha... OMIM:612289
Lowry-Wood Syndrome
Pigmentary retinopathy, Prominent nose OMIM:226960
Skin Creases, Congenital Symmetric Circumferential, 2
Depressed nasal bridge, Hypospadias, Hypertelorism, Wide nasal bridge, Microcornea, Ureterocele, ... OMIM:616734
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... OMIM:220110
Meckel Syndrome, Type 1
Occipital encephalocele, Hypertelorism, Hydrocephalus, Anencephaly, Abnormality of the ureter, Hy... OMIM:249000
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy ORPHA:394
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula... OMIM:209900
Mowat-Wilson Syndrome
Prominent nasal tip, Cataract, Hypospadias, Hypertelorism, Wide nasal bridge, Microcornea, Deeply... OMIM:235730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Craniosynostosis, Hypertelorism, Parietal foramina, Wide nasal bridge, Horseshoe kid... OMIM:609945
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... OMIM:277400
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypopigmentation of the ... OMIM:219800
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Wide nose, Corneal... ORPHA:580
Lymphedema-Distichiasis Syndrome
Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions OMIM:153400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Hydrocephalus, Optic... ORPHA:79282
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Chorioretinal lacunae, Multiple renal cysts, Reti... OMIM:618733
Degcags Syndrome
Prominent nose, Bilateral renal hypoplasia, Hypotelorism, Abnormality of skin pigmentation, Prema... OMIM:619488
Witteveen-Kolk Syndrome
Anisocoria, Deeply set eye, Male urethral meatus stenosis, Microphallus, Shallow orbits, Iris col... OMIM:613406
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Corneal crystals, Renal tubular dysfunction, Pigmentary retinopathy, Aminoacid... ORPHA:411629
Kearns-Sayre Syndrome
Renal tubular acidosis, Pigmentary retinopathy, Renal Fanconi syndrome OMIM:530000
Fanconi Anemia, Complementation Group C
Ectopic kidney, Horseshoe kidney, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:227645
Myhre Syndrome
Cataract, Prominent nasal bridge, Hypertelorism, Deeply set eye, Microphthalmia, Thickened calvar... OMIM:139210
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ectopic kidney, Limbal dermo... OMIM:164210
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Wide nose, Corneal opacity, Abnormal foveal mor... ORPHA:217085
Hydrolethalus Syndrome 1
Hypospadias, Anencephaly, Stillbirth, Bifid nose, Midline defect of the nose, Severe hydrocephalu... OMIM:236680
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Wide nose, Corneal opacity, Abnormal foveal mor... ORPHA:217093
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Myoglobinuria OMIM:609015
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... ORPHA:157850
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Choanal atresia, Long nose, Retinal pigment epithelial mottling, Pro... OMIM:251260
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Cataract, Urinary incontinence ORPHA:466768
Melas
Proteinuria, Optic atrophy, Pigmentary retinopathy, Focal segmental glomerulosclerosis, Proximal ... ORPHA:550
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Large clumps of pigment... ORPHA:167
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Cataract, Optic disc hypoplasia, Wide nasal ridge, Anteverted nares, Hypertelori... ORPHA:3455
Abetalipoproteinemia
Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Rod-cone dys... ORPHA:14
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Abnormal pupil morphology, Microcornea, Deeply set eye, Vesicoureteral refl... ORPHA:261552
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Cataract, Ectopic kidney, ... ORPHA:857
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Generalized aminoaciduria, Corneal sca... ORPHA:404454
8Q24.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Unilateral renal agenesis, Broad nasal tip, Bilateral m... ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Deeply set eye, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kid... ORPHA:261537
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Cataract OMIM:607459
Mowat-Wilson Syndrome
Urinary incontinence, Deeply set eye, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kid... ORPHA:2152
Pearson Syndrome
Renal insufficiency, Cataract, Proteinuria, Lacticaciduria, Renal cyst, Corneal stromal edema, Pi... ORPHA:699
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Lacticaciduria ORPHA:255210
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Developmental cataract, ... ORPHA:79474
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia, Calvarial skull defect OMIM:100300
Lipodystrophy, Familial Partial, Type 7
Cataract, Polyuria, Narrow nasal ridge, Developmental cataract, Pigmentary retinopathy, Short nose OMIM:606721
Neurodegeneration With Brain Iron Accumulation 1
Urinary incontinence, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentat... OMIM:234200
Hardikar Syndrome
Renal insufficiency, Hydroureter, Pyelonephritis, Pigmentary retinopathy, Vesicoureteral reflux, ... OMIM:301068
Treacher Collins Syndrome 1
Bilateral microphthalmos, Choanal atresia OMIM:154500

Histopathology

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

There is no histopathology data for Fat1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fat1.

No publications found that use IMPC mice or data for Fat1.

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