Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
orthodenticle homeobox 2
Synonyms:
E130306E05Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Otx2 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.

The table below shows human diseases predicted to be associated to Otx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Amblyopia, Retinal pigment epithelial mottl... ORPHA:97341
Nanophthalmos 4
Reduced visual acuity, Optic disc drusen, Microphthalmia, Visual impairment OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Visual impairment, Reduced visual acuity OMIM:616335
Central Areolar Choroidal Dystrophy
Visual loss, Visual impairment, Slow decrease in visual acuity, Dyschromatopsia, Hypopigmentation... ORPHA:75377
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology, High hypermetropia ORPHA:35612
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Abnormality of retinal pigmentation, Microphthalmia, Optic atrophy, Visual impairment ORPHA:1574
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Abnormality of vision, Microphthalmia, Bilateral microphtha... OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Visual loss, Retinal pigment epithelial atrophy, Blindness, Su... ORPHA:59181
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Retinal thinning, Abnor... ORPHA:827
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Dyschromatopsia, Macular dystrophy, Perifove... OMIM:608051
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration, High hypermetropia OMIM:251700
Choroideremia
Hypopigmentation of the fundus, Progressive visual loss, Chorioretinal degeneration, Pigmentary r... OMIM:303100
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Dandy-Walker malformation, Hydrocephalus, Macrocephaly, Holoprosencephaly OMIM:617967
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Visual i... OMIM:611040
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Microphthalmia, Blurred vision, Retin... ORPHA:209956
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology, Vis... ORPHA:1852
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Retinitis Pigmentosa 30
Optic atrophy, Rod-cone dystrophy, Chorioretinal atrophy, Bone spicule pigmentation of the retina... OMIM:607921
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, Central scotoma, Visual impairment, Macular dystrophy, Optic disc pallor,... OMIM:616170
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Retinitis Pigmentosa 57
Rod-cone dystrophy, Cystoid macular edema, Optic disc pallor, Attenuation of retinal blood vessels OMIM:613582
Foveal Hypoplasia 2
Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Optic nerve misrouting, Foveal ... OMIM:609218
Retinitis Pigmentosa 39
Rod-cone dystrophy, Visual field defect, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613809
Bothnia Retinal Dystrophy
Large central visual field defect, Retinal pigment epithelial atrophy, Central scotoma, Color vis... ORPHA:85128
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation, Blue cone monochromacy, Photophobia, Visu... ORPHA:16
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Bietti Crystalline Dystrophy
Large central visual field defect, Constriction of peripheral visual field, Central scotoma, Colo... ORPHA:41751
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, C... OMIM:251270
Familial Drusen
Visual loss, Macular hyperpigmentation, Metamorphopsia, Subretinal fluid, Abnormality of retinal ... ORPHA:75376
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Visual impairment ORPHA:1995
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:619755
Holoprosencephaly 7
Upslanted palpebral fissure, Hypoplasia of the premaxilla, Panhypopituitarism, Midline defect of ... OMIM:610828
Achromatopsia
Absent foveal reflex, Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, A... ORPHA:49382
Optic Atrophy 5
Central scotoma, Tritanomaly, Slow decrease in visual acuity, Optic atrophy OMIM:610708
Retinitis Pigmentosa 47
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Visual impairment OMIM:613758
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Holoprosencephaly 9
Abnormal cortical gyration, Dental malocclusion, Anophthalmia, Hypoplasia of the premaxilla, Ante... OMIM:610829
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Retinitis Pigmentosa 37
Cataract, Rod-cone dystrophy, Pigmentary retinopathy, Tritanomaly, Photophobia, Nyctalopia, Cysto... OMIM:611131
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Hypermetropia, Microphthalmia, Macular atrophy, N... OMIM:267760
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Progressive visual loss, Cataract, Rod-cone dystrophy, Optic disc pa... OMIM:614500
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Blindness, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Bone spicule ... OMIM:180210
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Microphthalmia, Optic disc pallor, Macular atrophy, Optic atr... OMIM:616171
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentat... OMIM:610359
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Hypoplasia of the brainstem,... OMIM:225790
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Progressive Cone Dystrophy
Abnormality of retinal pigmentation, Color vision defect, Photophobia, Visual impairment ORPHA:1871
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy, Visual impairment OMIM:165199
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Color vision defect, Visual impairment, Myopia, Hypoautofluor... OMIM:304020
Retinitis Pigmentosa 11
Blindness, Rod-cone dystrophy, Macular edema, Optic disc pallor, Bone spicule pigmentation of the... OMIM:600138
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Foveal Hypoplasia-Presenile Cataract Syndrome
Abnormality of vision, Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Choroideremia
Myopia, Abnormality of vision, Progressive visual loss, Abnormality of retinal pigmentation, Nyct... ORPHA:180
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment ORPHA:2246
Retinitis Pigmentosa 76
Retinal thinning, Peripapillary atrophy, Cystoid macular edema, Hyperautofluorescent macular lesi... OMIM:617123
Macular Degeneration, Age-Related, 13
Macular scar, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Anencephaly, Microcephaly, Dandy-Walk... OMIM:611134
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Nyctalopia, Visual impairment ORPHA:1872
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Blindness, Cataract, Pigmentary retinopathy, Optic disc pal... OMIM:204100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Cataract, Retinal detachment, Corne... ORPHA:1473
Progressive Bifocal Chorioretinal Atrophy
Myopia, Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy, Visual impairment ORPHA:75373
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration, Abnormal flash visual e... OMIM:618195
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment ORPHA:1178
Microphthalmia, Isolated 6
Microphthalmia, Microcornea, Retinal fold, High hypermetropia OMIM:613517
Retinitis Pigmentosa 4
Blindness, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Visual field defect, Nyctalopia OMIM:613731
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia, Visual impairment OMIM:613703
Liberfarb Syndrome
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ... OMIM:618889
Leber Hereditary Optic Neuropathy, Modifier Of
Leber optic atrophy, Optic atrophy OMIM:308905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Hypopla... OMIM:615287
Bornholm Eye Disease
Deuteranopia, High myopia, Amblyopia, Abnormality of retinal pigmentation, Astigmatism, Optic ner... OMIM:300843
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of... OMIM:613801
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Rhomben... ORPHA:280195
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Blindness, Cataract, Retinal detachment, Retina... OMIM:310600
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Nyctalopia, Adult-onset night ... OMIM:608133
Holoprosencephaly 5
Semilobar holoprosencephaly, Dilation of lateral ventricles, Central diabetes insipidus, Upslante... OMIM:609637
Best Vitelliform Macular Dystrophy
Color vision defect, Choroideremia, Visual field defect, Cystoid macular degeneration, Metamorpho... ORPHA:1243
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuat... OMIM:613428
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Molar tooth sign on MRI OMIM:614175
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Micr... ORPHA:2570
Central Retinal Vein Occlusion
Large central visual field defect, Abnormal anterior eye segment morphology, Visual loss, Cystoid... ORPHA:411527
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Wagner Vitreoretinopathy
Visual loss, Vitreoretinopathy, Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, ... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Visual loss, Blindness, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity,... OMIM:601718
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinitis Pigmentosa 17
Color vision defect, Rod-cone dystrophy, Photophobia, Bone spicule pigmentation of the retina, Ny... OMIM:600852
Congenital Primary Aphakia
Congenital aphakia, Abnormality of vision, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplas... ORPHA:83461
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Attenuation of retinal b... OMIM:614180
Retinitis Pigmentosa 69
Pigmentary retinopathy, Abnormality of retinal pigmentation, Constriction of peripheral visual fi... OMIM:615780
Birdshot Chorioretinopathy
Macular scar, Retinal thinning, Retinal detachment, Photophobia, Attenuation of retinal blood ves... ORPHA:179
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Retinitis Pigmentosa 2
Pericentral scotoma, Bull's eye maculopathy, Central scotoma, Ring scotoma, High myopia, Fundus a... OMIM:312600
Diprosopus
Anencephaly ORPHA:1681
Holoprosencephaly 2
Diabetes insipidus, Agenesis of corpus callosum, Adrenal hypoplasia, Midface retrusion, Microphth... OMIM:157170
Duane Retraction Syndrome
Central heterochromia, Everted lower lip vermilion, Micrognathia, Ptosis, Microcephaly, Hypoplast... ORPHA:233
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Vitelliform-like macular lesions, Choroideremia, Iris... ORPHA:99000
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Cystoid macular edema, Hyperautofluorescent retinal lesion, B... OMIM:619007
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Arrhinencephaly OMIM:300073
Congenital Stationary Night Blindness
Color vision defect, Hypermetropia, Myopia, Abnormality of retinal pigmentation, Retinal thinning... ORPHA:215
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy,... OMIM:610478
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Optic Atrophy 3, Autosomal Dominant
Scotoma, Cataract, Optic disc pallor, Optic atrophy, Reduced visual acuity OMIM:165300
Peripheral Cone Dystrophy
Pericentral scotoma, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy,... OMIM:609021
Cofs Syndrome
Cerebral calcification, Sensorineural hearing impairment, Cataract, Everted lower lip vermilion, ... ORPHA:1466
Retinitis Pigmentosa 28
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Const... OMIM:606068
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels, Visual impairment OMIM:618513
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Central scotoma, Color vision defect, Macular drusen, Reduced... OMIM:608850
Anencephaly 2
Anencephaly OMIM:619452
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Visual impairment OMIM:614307
Late-Onset Retinal Degeneration
Retinopathy, Visual loss, Retinal degeneration, Blindness, Rod-cone dystrophy, Sub-RPE deposits, ... OMIM:605670
Pyknoachondrogenesis
Stillbirth OMIM:265880
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy, Nyctalopia, Constriction ... OMIM:312612
Warburg Micro Syndrome 1
Developmental cataract, Cerebellar hypoplasia, Cryptorchidism, Perisylvian polymicrogyria, Microg... OMIM:600118
Pierpont Syndrome
Broad nasal tip, Cryptorchidism, Everted lower lip vermilion, Widely spaced teeth, Microcephaly, ... OMIM:602342
Vitreoretinochoroidopathy
Color vision defect, Abnormality of chorioretinal pigmentation, Dyschromatopsia, Blindness, Micro... OMIM:193220
Schisis Association
Microcephaly, Anencephaly, Spina bifida, Encephalocele ORPHA:63862
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Hyp... OMIM:172870
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 88
Cystoid macular edema, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ... OMIM:618826
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Holoprosencephaly, Encephal... ORPHA:1590
Chorioretinal Atrophy, Progressive Bifocal
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment OMIM:600790
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly OMIM:601355
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Blindness, Cataract, Pigmentary retinopathy, Photophobia, Kera... OMIM:204000
3Q29 Microduplication Syndrome
Biparietal narrowing, High palate, Ectopic anus, Low-set ears, Sclerocornea, Cataract, Deep philt... ORPHA:251038
Chromosome 1Q41-Q42 Deletion Syndrome
Deeply set eye, Upslanted palpebral fissure, Hypotelorism, Cleft upper lip, Cryptorchidism, Micro... OMIM:612530
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio, Glaucomatous visual field defect OMIM:177700
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, High palate, Short philtrum, Delayed puberty, Thick eyebrow, Microg... ORPHA:217340
Distal Monosomy 7Q36
Upslanted palpebral fissure, Bulbous nose, Non-midline cleft lip, Cryptorchidism, Micrognathia, M... ORPHA:1636
Cone-Rod Dystrophy 3
Bull's eye maculopathy, Visual loss, Central scotoma, Color vision defect, Pigmentary retinopathy... OMIM:604116
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Hypoplasia of the brainstem,... OMIM:605013
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Color vision defect, Progressive visual loss, Photo... OMIM:180020
Holoprosencephaly
Upslanted palpebral fissure, Diabetes insipidus, Panhypopituitarism, Aplasia/Hypoplasia of the co... ORPHA:2162
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Abnormal best corrected visual acuity test, Optic nerve hypoplasia, Corne... ORPHA:137902
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Myopia, Progressive visual loss, Retinal detachment, Cataract, Poste... OMIM:616468
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism, Hypermetropia OMIM:268060
Spastic Paraplegia 74, Autosomal Recessive
Visual field defect, Peripheral axonal neuropathy, Optic atrophy, Visual impairment OMIM:616451
Retinitis Pigmentosa 92
Pigmentary retinopathy, Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field,... OMIM:619614
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Developmental glaucoma, Corneal opacity, Micrognathia, Depressed nas... ORPHA:1064
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Myopia, Sclerocornea, Microcornea, Cataract, Microphthalmia... ORPHA:139471
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Central scotoma, Color vision defect, Visual impairment, Myopia, Astigmatis... OMIM:300476
Usher Syndrome, Type Iv
Retinal degeneration, Ring scotoma, Retinal atrophy, Hyperautofluorescent macular lesion, Bone sp... OMIM:618144
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Broad nasal tip, Abnormal spaced incisors, Anophthalmia, Short philtrum, Bulbous n... ORPHA:411986
Neovascular Glaucoma
Visual loss, Retinal vein occlusion, Visual acuity test abnormality, Retinal vascular proliferati... ORPHA:94058
Retinitis Pigmentosa 46
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract, At... OMIM:612572
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Progressive visual loss, Cystoid macular edema, Cortical cata... OMIM:618613
Cone-Rod Dystrophy 17
Central scotoma, Optic disc pallor, Photophobia, Cone/cone-rod dystrophy, Visual impairment OMIM:615163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Retinitis Pigmentosa 38
Progressive visual loss, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor, Macul... OMIM:613862
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Cerebral visual impairment, Visual field defect, Reduced visual acuity, Optic ... OMIM:615722
Walker-Warburg Syndrome
Abnormal cortical gyration, Bifid uvula, Cerebellar hypoplasia, Cryptorchidism, Retinal detachmen... ORPHA:899
Late-Onset Retinal Degeneration
Abnormal best corrected visual acuity test, Fundus atrophy, Multifocal subretinal deposits, Trita... ORPHA:67042
Donnai-Barrow Syndrome
Broad nasal tip, Aplasia/Hypoplasia of the corpus callosum, Retinal detachment, Macrocephaly, Sho... OMIM:222448
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens s... ORPHA:171844
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Canavan Disease
Blindness, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic at... ORPHA:141
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, M... ORPHA:1931
Retinitis Pigmentosa 1
Myopia, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Nyctalopia, Constriction of ... OMIM:180100
Optic Atrophy 12
Dyschromatopsia, Optic disc pallor, Photophobia, Abnormal Ishihara plate test, Optic atrophy, Red... OMIM:618977
Morning Glory Disc Anomaly
Amblyopia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy, Myopia OMIM:600510
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Reduced visual acuity, Retinal dys... OMIM:615147
Monosomy 18P
Short philtrum, Hypothyroidism, Hypodontia, Carious teeth, Wide nasal bridge, Micrognathia, Ptosi... ORPHA:1598
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly, Micromelia, Mandibular pro... ORPHA:1908
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, ... ORPHA:284454
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Jacobsen Syndrome
Missing ribs, Cryptorchidism, Micrognathia, Ptosis, Microcephaly, Nasolacrimal duct obstruction, ... OMIM:147791
Leber Congenital Amaurosis 15
Retinopathy, Color vision defect, Retinal degeneration, Myopia, Hypermetropia, Rod-cone dystrophy... OMIM:613843
Cone-Rod Dystrophy 2
Constriction of peripheral visual field, Central scotoma, Color vision defect, Retinal pigment ep... OMIM:120970
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss,... OMIM:312700
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Cranial nerve compression, Optic atrophy, Macular atrophy OMIM:250450
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia, Visual impairment OMIM:246000
Oculocutaneous Albinism Type 1
White eyebrow, Hypoplasia of the fovea, Amblyopia, Optic nerve misrouting, Abnormality of visual ... ORPHA:352731
Exudative Vitreoretinopathy 5
Shallow anterior chamber, Exudative vitreoretinopathy, Visual impairment, Retinal exudate, Tracti... OMIM:613310
Retinitis Pigmentosa 63
Rod-cone dystrophy, Blurred vision, Nyctalopia, Optic disc pallor OMIM:614494
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Retinal dysplasia, Developmental cataract, Ocular anterior segment dysgenesis ORPHA:324416
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Retinopathy, Pigmentary, And Mental Retardation
Visual impairment, Myopia, Cataract, Pigmentary retinopathy, Reduced visual acuity OMIM:268050
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Visual impairment, Myopia, Peripapillary atrophy, Astigmatism... OMIM:616188
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold, Red... OMIM:605750
Peho-Like Syndrome
Cerebellar atrophy, Progressive microcephaly, Open mouth, Ventriculomegaly, Lissencephaly, Pachyg... OMIM:617507
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Adams-Oliver Syndrome 2
Cerebral atrophy, Developmental cataract, Hypertelorism, Low-set ears, Bulbous nose, Cerebellar h... OMIM:614219
Retinitis Pigmentosa 71
Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescenc... OMIM:616394
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Cataract, Abnormality of the optic disc, Severely reduced vi... ORPHA:65
Retinitis Pigmentosa 66
Central scotoma, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract, Reduced v... OMIM:615233
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Septo-optic dysplasia, Ectopic anterior pituitary gland, Agenesis ... ORPHA:95494
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplas... OMIM:606574
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Pierpont Syndrome
Abnormal cortical gyration, Cryptorchidism, Everted lower lip vermilion, Widely spaced teeth, Sho... ORPHA:487825
Proboscis Lateralis
Abnormal corpus callosum morphology, Abnormal paranasal sinus morphology, Long philtrum, Optic ne... ORPHA:141099
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, High hypermetropia, Reduced visual acuity OMIM:617879
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Absent nares, Abnormal cranial nerve morphology, Agenesis of corpus callosum, Aplas... ORPHA:990
Trisomy 18
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Microcephaly,... ORPHA:3380
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Color vision defect, Retinal detachment, Retinal pigment epit... ORPHA:364055
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Upslanted palpebral fissure, Cerebellar hypoplasia, Cryptorchidism, Optic nerve hypoplasia, Micro... ORPHA:468631
Fatty Acyl-Coa Reductase 1 Deficiency
Cerebellar atrophy, Progressive microcephaly, Long philtrum, Ptosis, Highly arched eyebrow, Dandy... ORPHA:438178
Leber Congenital Amaurosis 4
Blindness, Keratoconus, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy, Nyctalopia, ... OMIM:604393
Focal Dermal Hypoplasia
Broad nasal tip, Diastasis recti, Cryptorchidism, Microcephaly, Midclavicular aplasia, Cleft pala... OMIM:305600
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Cerebellar hypoplasia, Dysgyria, Hypoplasia of the brainstem, Hydrocepha... ORPHA:352682
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Posterior subcapsular cataract, Bon... OMIM:618173
Optic Atrophy 6
Optic atrophy, Photophobia, Red-green dyschromatopsia, Visual impairment OMIM:258500
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Chorioretinal atrophy, Nummular pigmentation of the fundus, Bone spicule ... OMIM:618697
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Visual loss, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Optic Atrophy 9
Paracentral scotoma, Reduced visual acuity, Optic atrophy, Red-green dyschromatopsia, Visual impa... OMIM:616289
Chromosome 16Q12 Duplication Syndrome
High myopia, Temporal optic disc pallor, Anisocoria, Cataract, Retinal pigment epithelial mottlin... OMIM:619649
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Progressive visual loss, Retinal dystrophy, Visual... ORPHA:3156
Non-Distal Trisomy 10Q
High palate, Cryptorchidism, Everted lower lip vermilion, Convex nasal ridge, Aplasia/Hypoplasia ... ORPHA:1695
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Optic Atrophy 1
Central scotoma, Visual impairment, Abnormal amplitude of pattern reversal visual evoked potentia... OMIM:165500
Meckel Syndrome 13
Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Abnormality of the ear, Agenesis of corpus callosum, Elbow flexion contracture, L... OMIM:214150
Retinitis Pigmentosa 43
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract, Bo... OMIM:613810
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Abnormality of the calvaria, Hypoplas... ORPHA:563612
Meckel Syndrome, Type 2
Dandy-Walker malformation, Anencephaly, Meningocele, Encephalocele OMIM:603194
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Photophobia, Bone spicule pigmentat... OMIM:602772
Irvan Syndrome
Retinal exudate, Retinal detachment, Blurred vision, Macular edema, Photophobia, Tractional retin... ORPHA:209943
Anterior Segment Dysgenesis 8
Uveal ectropion, Persistent pupillary membrane, Hypoplasia of the iris, Iridodonesis, Cataract, O... OMIM:617319
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Absent mesencephalon OMIM:601374
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract, Bone s... OMIM:180105
Retinitis Pigmentosa 41
Pigmentary retinopathy, Rod-cone dystrophy, Severely reduced visual acuity, Optic disc pallor, Ma... OMIM:612095
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Diabetes insipidus, Optic nerve hypop... OMIM:182230
Hartsfield Syndrome
Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ptosis... ORPHA:2117
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, ... OMIM:600059
Frontonasal Dysplasia 1
Broad nasal tip, Ptosis, Coloboma, Epicanthus, Bifid nose, Anterior basal encephalocele, Median c... OMIM:136760
Retinitis Pigmentosa 78
Cystoid macular edema, Photopsia, Optic disc pallor, Visual field defect, Nyctalopia, Reduced vis... OMIM:617433
Holoprosencephaly 4
Semilobar holoprosencephaly, Hypotelorism, Ptosis, Depressed nasal bridge, Median cleft lip and p... OMIM:142946
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis, Myopia ORPHA:1259
Trisomy 1Q
Abnormality of the outer ear, Narrow mouth, Hypotelorism, Anophthalmia, Agenesis of corpus callos... ORPHA:261344
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Nyctalopia, Attenuatio... OMIM:613194
Microspherophakia With Hernia
Microspherophakia, Retinal detachment, Superior lens subluxation, Myopia OMIM:157150
Oliver-Mcfarlane Syndrome
Central heterochromia, Peripheral axonal neuropathy, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Retinitis Pigmentosa 51
High myopia, Rod-cone dystrophy, Photophobia, Macular degeneration, Reduced visual acuity, Bone s... OMIM:613464
Trisomy 12P
Proptosis, Low-set ears, Thick eyebrow, Supernumerary nipple, Everted lower lip vermilion, Aplasi... ORPHA:1699
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Micrognathia, Microphthalmia, Retrognathia OMIM:615524
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Galloway-Mowat Syndrome 1
Micrognathia, Ptosis, Microcephaly, Dandy-Walker malformation, Hypoplasia of the brainstem, Opaci... OMIM:251300
Retinitis Pigmentosa
Progressive night blindness, Blindness, Abnormality of retinal pigmentation, Cataract, Photophobi... ORPHA:791
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy, Myopia ORPHA:2743
Retinitis Pigmentosa 14
Rod-cone dystrophy, Retinal arteriolar constriction, Optic disc pallor, Posterior subcapsular cat... OMIM:600132
Trisomy 13
Long philtrum, Cryptorchidism, High, narrow palate, Cleft palate, Hypotelorism, Anophthalmia, Cat... ORPHA:3378
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor, Constriction of per... OMIM:616389
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Pontocerebellar Hypoplasia, Type 1F
Cerebral atrophy, Long philtrum, Blue sclerae, Cerebellar hypoplasia, Microcephaly, Depressed nas... OMIM:619304
Juvenile Glaucoma
Central scotoma, High myopia, Temporal optic disc pallor, Retinal vein occlusion, Abnormality of ... ORPHA:98977
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Central scotoma, Color vision defect, Blind-spot enlargment, Cerulean cataract, Optic disc pallor... OMIM:616732
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Porencephalic cyst, Subcortical band ... OMIM:615191
Ectopia Lentis Et Pupillae
High myopia, Persistent pupillary membrane, Cataract, Retinal detachment, Ectopia lentis OMIM:225200
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia, High hypermetropia OMIM:251600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Low-set ears, Abnormal brainstem morphology, Thick nasal alae, Ventriculo... ORPHA:163961
Nance-Horan Syndrome
Visual loss, Microcornea, Cataract, Retinal detachment, Microphthalmia, Visual impairment ORPHA:627
Jalili Syndrome
Color vision defect, Abnormality of retinal pigmentation, Photophobia, Optic atrophy, Visual impa... ORPHA:1873
Cerebrooculonasal Syndrome
Epicanthus, Macrocephaly, Cleft palate, Short nose, Encephalocele, Cerebellar vermis hypoplasia, ... OMIM:605627
Retinitis Punctata Albescens
Absent foveal reflex, Central scotoma, Progressive night blindness, Progressive visual field defe... ORPHA:52427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Myopia, Blindness, Cataract, Retinal detachment, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia... OMIM:615145
Retinitis Pigmentosa 62
Visual field defect, Nyctalopia, Optic disc pallor, Rod-cone dystrophy OMIM:614181
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Optic Atrophy 8
Visual loss, Central scotoma, Abnormality of pattern visual evoked potentials, Abnormal auditory ... OMIM:616648
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Atten... OMIM:613756
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the corpus callosum, Wide nasal bridge, Ventriculomegaly, Micrognathia, Mic... ORPHA:3207
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Upslanted palpebral fissure, Long philtrum, Thick eyebrow, Highly arched eyebrow, Microcephaly, T... OMIM:614701
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Hypop... OMIM:604229
Retinitis Pigmentosa 26
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Constriction of peri... OMIM:608380
Retinitis Pigmentosa 70
Rod-cone dystrophy, Nyctalopia, Retinal degeneration, Optic disc pallor OMIM:615922
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly OMIM:236500
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Microspherophakia-Metaphyseal Dysplasia
Myopia, Retinal detachment, Lens subluxation, Lens coloboma, Microspherophakia OMIM:157151
Marcus-Gunn Syndrome
Unilateral ptosis, Morning glory anomaly, Abnormal ear morphology, Choanal atresia, Cleft lip, Ab... ORPHA:91412
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Holoprosencephaly, Cerebral cortical atrophy ORPHA:2523
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Broad nasal tip, Upslanted palpebral fissure, Chorioretinal lacunae, Long philtrum, Astigmatism, ... OMIM:152950
Eem Syndrome
Abnormality of retinal pigmentation, Abnormality of vision, Macular dystrophy, Retinopathy ORPHA:1897
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Optic disc pallor, Photophobia, Retinal dystrophy, Nyctalopia OMIM:616079
Megalocornea-Mental Retardation Syndrome
High palate, Cupped ear, Bifid uvula, Long philtrum, Iridodonesis, Hypoplasia of the iris, Primar... OMIM:249310
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Blindness, Abnormality of retinal pigmentation, Retinal arteriola... OMIM:605549
Acalvaria
Holoprosencephaly, Spina bifida, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:945
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Myopia, Cataract, Retinal detachment, Corneal op... ORPHA:90654
Retinopathy Of Prematurity
Abnormal macular morphology, Blindness, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tract... ORPHA:90050
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Microphthalmia, Syndromic 5
Anophthalmia, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy OMIM:610125
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Depressed nasal ridge, Low-set ears, Microphthalmia, Microcephaly,... OMIM:613885
Joubert Syndrome 10
Thick vermilion border, Low-set ears, Molar tooth sign on MRI, Deep philtrum, Wide nasal bridge, ... OMIM:300804
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of the optic nerve, Abnormality of... ORPHA:79434
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Hypoplasia of the corpus callosum, Abnormal palate morphology, Ventriculomegaly, Mi... ORPHA:1495
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Myopia, Astigmatism, Abnormal pupil morphol... ORPHA:54
Retinitis Pigmentosa 58
Rod-cone dystrophy, Severely reduced visual acuity, Optic disc pallor, Bone spicule pigmentation ... OMIM:613617
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Deeply set eye, Long philtrum, Sparse lateral eyebrow, Everted lower l... ORPHA:261120
Triploidy
Narrow mouth, Hypertelorism, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, In... ORPHA:3376
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Severe sensorineural hearing impairment, Depressed nasal ridge, Non-midline cleft lip, Bilateral ... ORPHA:2003
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Peripheral axonal neuropathy OMIM:619090
Sjögren-Larsson Syndrome
Retinopathy, Myopia, Abnormality of retinal pigmentation, Macular degeneration, Photophobia, Gene... ORPHA:816
Warburg Micro Syndrome 3
Developmental cataract, Micrognathia, Microcephaly, Decreased muscle mass, Short nose, Decreased ... OMIM:614222
Oculocerebrocutaneous Syndrome
Orbital cyst, Anophthalmia, Agenesis of corpus callosum, Cleft ala nasi, Cryptorchidism, Eyelid c... OMIM:164180
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Progressive visual loss, Macular degeneration, Optic atrophy OMIM:164500
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Open bite, Abnormality of dental eruption, Highly arched eyebrow, Microc... ORPHA:1327
Smith-Lemli-Opitz Syndrome
Upslanted palpebral fissure, Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Cryptorchi... ORPHA:818
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Chorioretinal coloboma, Macular coloboma, Myopia ORPHA:2196
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Carey-Fineman-Ziter Syndrome 1
Broad nasal tip, Trismus, Cryptorchidism, Micrognathia, Ptosis, Microcephaly, Hypoplasia of the b... OMIM:254940
Lowry-Maclean Syndrome
Blue sclerae, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, High, narrow palate, Micro... ORPHA:2409
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor, Photophobia, Reduced visual acuity, Nyctalopia, Visual impairment OMIM:614186
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia, Macrotia, Cleft palate, Prominent nose OMIM:221950
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Cerebellar hypoplasia, Reduced muscle fiber alpha dystroglycan, Op... ORPHA:370959
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Congenital blindness, Exudative vitreoretinopathy, Moderately... ORPHA:2788
Megalocornea-Intellectual Disability Syndrome
High palate, Short philtrum, Abnormal anterior chamber morphology, Hypothyroidism, Iridodonesis, ... ORPHA:2479
Bietti Crystalline Corneoretinal Dystrophy
High myopia, Retinal degeneration, Progressive night blindness, Marginal corneal dystrophy, Progr... OMIM:210370
Solitary Median Maxillary Central Incisor
Pyriform aperture stenosis, Hypotelorism, Anophthalmia, Anosmia, Cleft upper lip, Solitary median... OMIM:147250
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Low-set, posteriorly rotated ears, Epicanthus, Thin upper lip vermilion, Anteverted... ORPHA:2015
49,Xxxxy Syndrome
Upslanted palpebral fissure, Open bite, Cryptorchidism, Mandibular prognathia, Epicanthus, Cleft ... ORPHA:96264
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Abnormality of vision, Optic atrophy ORPHA:2773
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology, Hydr... ORPHA:1532
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Charge Syndrome
Abnormal cranial nerve morphology, Cryptorchidism, Ptosis, Highly arched eyebrow, Microcephaly, D... ORPHA:138
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Hydrolethalus
Deeply set eye, Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Low-set ears, Cryptorchid... ORPHA:2189
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy OMIM:274270
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Lambotte Syndrome
Semilobar holoprosencephaly, Narrow mouth, Atresia of the external auditory canal, Convex nasal r... OMIM:245552
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Agenesis of corpus callosum, Sensorineural hearing impairm... OMIM:109120
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Decreased circula... OMIM:301033
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Microcephaly, Holoprosencephaly OMIM:306990
Microphthalmia With Limb Anomalies
Short palpebral fissure, High palate, Anophthalmia, Cleft upper lip, Hand oligodactyly, Low-set e... OMIM:206920
Developmental Delay With Variable Neurologic And Brain Abnormalities
Upslanted palpebral fissure, Sparse lateral eyebrow, Astigmatism, Cataract, Widely spaced teeth, ... OMIM:619694
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Myopia, Abnormality of retinal pigmentation, Nyctalopia, Abnormal retinal v... ORPHA:1390
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Broad nasal tip, Upslanted palpebral fissure, Thick vermilion border, Hypoteloris... ORPHA:250999
Retinitis Pigmentosa 68
Retinal atrophy, Visual field defect, Nyctalopia, Rod-cone dystrophy OMIM:615725
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Baraitser-Winter Syndrome 1
Long philtrum, Cryptorchidism, Ptosis, Highly arched eyebrow, Microcephaly, Lissencephaly, Retrog... OMIM:243310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Low-set ears, Depressed nasal bridge, Retrognathia, Epicanthus, Hypertelorism, Antev... OMIM:614069
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Meningioma
Focal T2 hypointense thalamic lesion, Hypogonadotropic hypogonadism, Decreased circulating follic... ORPHA:2495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Phthisis bulbi, Uveitis, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Long philtrum, Blue sclerae, Cerebellar hypoplasia, Micrognathia, Microcephaly, H... ORPHA:391408
Oculocutaneous Albinism Type 2
Macular hypopigmentation, White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypoplas... ORPHA:79432
Narp Syndrome
Blindness, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy... ORPHA:644
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Corneal neovascularization, Aniridia, Abnormality... ORPHA:2334
Peho Syndrome
Microcephaly, Abnormality of upper lip, Arthrogryposis multiplex congenita, Epicanthus, Short nos... ORPHA:2836
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele OMIM:614465
Cataract 9, Multiple Types
Developmental cataract, Amblyopia, Microcornea, Cataract, Microphthalmia, Progressive cataract, I... OMIM:604219
Microform Holoprosencephaly
Hypothyroidism, Panhypopituitarism, Tented upper lip vermilion, Microcephaly, Cleft palate, Short... ORPHA:280200
Chromosome 6Pter-P24 Deletion Syndrome
Blue sclerae, Tented upper lip vermilion, Ocular anterior segment dysgenesis, Dandy-Walker malfor... OMIM:612582
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Choanal atresia, Low-set, posteriorly rotated ears, Aplasia/... ORPHA:1104
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Abnormality of the hypothalamus-pituitary axis, Anal stenos... ORPHA:782
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Low-set ears, Gingival fibromatosis, Micrognathia, Mandibular aplasia, Mic... ORPHA:1832
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar hypoplasia, Rhizomelic arm shortening, Micrognath... ORPHA:397715
Macular Degeneration, Age-Related, 1
Progressive visual loss, Geographic atrophy, Foveal hypopigmentation, Choroidal neovascularizatio... OMIM:603075
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Wide nasal bridge, Hypopl... ORPHA:166024
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Colon cancer, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcepha... ORPHA:1052
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
High hypermetropia, Attenuation of retinal blood vessels, Retinal thinning, Peripheral retinal at... OMIM:145350
Temtamy Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Low-set ears, Aplasia/Hypoplasia of the corpu... ORPHA:1777
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration, Myopia OMIM:311000
Retinitis Pigmentosa 74
Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc p... OMIM:616562
Jalili Syndrome
Optic disc pallor, Photophobia, Monochromacy, Cone/cone-rod dystrophy, Nyctalopia OMIM:217080
Congenital Disorder Of Glycosylation, Type Iu
High palate, Hypotelorism, Thin upper lip vermilion, Cerebellar hypoplasia, Cerebral white matter... OMIM:615042
Retinitis Pigmentosa 79
Optic disc pallor, Photophobia, Macular atrophy, Nyctalopia, Constriction of peripheral visual fi... OMIM:617460
Chromosome Xp11.3 Deletion Syndrome
Attenuation of retinal blood vessels, Optic atrophy, Blindness, Cataract, Pigmentary retinopathy,... OMIM:300578
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation, High myopia ORPHA:1117
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, Upslanted palpebral fissure, High palate, Deeply set eye, Long philtrum, Low-set ea... OMIM:270450
16P13.11 Microdeletion Syndrome
Cleft upper lip, Agenesis of corpus callosum, Low-set ears, Thin upper lip vermilion, Cryptorchid... ORPHA:261236
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar hypoplasia, Retinal detachment, Dandy-Walker malformation, Lissencephaly, Hypo... OMIM:613153
Short Syndrome
Deeply set eye, Abnormal anterior chamber morphology, Short palm, Hypoplasia of the iris, Posteri... ORPHA:3163
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Microphthalmia, Aplasia/Hypoplasi... ORPHA:290
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, Cerebellar atrophy, Drooling, Low-set ears, Blue sclerae, Long eyelashes, Catar... OMIM:619286
Distal Monosomy 6P
Underdeveloped nasal alae, Micrognathia, Epicanthus, Anterior synechiae of the anterior chamber, ... ORPHA:96125
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Broad nasal tip, Progressive microcephaly, Long philtrum, Cerebellar hypoplasia, Abnormally large... OMIM:300749
Donnai-Barrow Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Intes... ORPHA:2143
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 45
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Nyctalopia, Pe... OMIM:613767
Goldberg-Shprintzen Syndrome
Corneal ulceration, Blue sclerae, Thick eyebrow, Everted lower lip vermilion, Ptosis, Highly arch... OMIM:609460
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Cataract, Microtia, Aplasia/Hypoplasia affecting the eye, Choanal atresia, Macr... ORPHA:1914
Acitretin/Etretinate Embryopathy
High palate, Hypoplastic nasal septum, Cupped ear, Median cleft palate, Abnormal retinal morpholo... ORPHA:40366
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Anophthalmia, Abnormality of the ear, Corneal dystrophy, Long... ORPHA:1101
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow mouth, Deeply set eye, Broad columella, Blue sclerae, Carious teeth, EMG: myopathic abnorm... ORPHA:457365
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Thin vermilion border, Hypertelorism, Short palm, Low-set ears, Long philtrum, ... ORPHA:171839
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Color vision defect, Progressive visual loss, Rod-cone dystro... OMIM:613660
Marden-Walker Syndrome
Long philtrum, Cerebellar hypoplasia, Cryptorchidism, Micrognathia, Ptosis, Microcephaly, Dandy-W... OMIM:248700
Wagr Syndrome
Hearing abnormality, Cryptorchidism, Cataract, Everted lower lip vermilion, Micrognathia, Ptosis,... ORPHA:893
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Nyctalopia, Retinoschisis, He... OMIM:268100
Genitourinary And/Or Brain Malformation Syndrome
Abnormality of the outer ear, Dysplastic corpus callosum, Upslanted palpebral fissure, Long philt... OMIM:618820
Stromme Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Retinal vascular tortu... OMIM:243605
Joubert Syndrome 36
Sensorineural hearing impairment, Molar tooth sign on MRI, Open mouth, Ptosis, Highly arched eyeb... OMIM:618763
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Constriction of peripheral visual field OMIM:520000
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Low-set ears, Wide nasal bridge, Aganglionic megacolon, Microtia, Ptosis, Downsla... OMIM:613603
Congenital Toxoplasmosis
Microphthalmia, Abnormality of retinal pigmentation, Visual impairment ORPHA:858
Neonatal Adrenoleukodystrophy
Abnormal palate morphology, Primary adrenal insufficiency, Sensorineural hearing impairment, Cata... ORPHA:44
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hypertelorism, Cavum septum pellucidum, Ventriculomegaly, Microphthalmia, Downslan... OMIM:602501
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Progressive microcephaly, Low-set ears, Long eyelashes, Astigmatism, Microgna... OMIM:617802
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Gms Syndrome
Short philtrum, Short palm, Low-set ears, Microtia, Microcephaly, Downslanted palpebral fissures,... OMIM:138770
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, Agenesis of corpus callosum, Skeletal muscle atrophy, Wide nasa... OMIM:218000
Orofaciodigital Syndrome Vi
Accessory oral frenulum, Broad nasal tip, Hypothalamic hamartoma, High palate, Cleft upper lip, T... OMIM:277170
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia OMIM:616546
Monosomy 13Q14
Hypoplasia of the corpus callosum, Hypertelorism, Low-set ears, Aplasia/Hypoplasia of the thumb, ... ORPHA:1587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Congenital muscular dystrophy, Cerebellar hypoplasia, Retinal detachment, Retinal dysplas... OMIM:253800
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Agenesis of corpus callosum, Low-set ears, Conductive hearing impairment,... OMIM:202650
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Upslanted palpebral fissure, Long philtrum, Blue sclerae, Thick eyebrow, Tented upper lip vermili... OMIM:619383
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Hypertelorism, Long philtrum, Hemiatrophy of upper limb, Hypopigmentation of the fun... ORPHA:163649
Frontofacionasal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Ptosis, Telecanthus, Upper eyelid coloboma, Cleft palate, Ence... ORPHA:1791
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Ultra-low vision with retained light perception, R... OMIM:612109
Gomez-Lopez-Hernandez Syndrome
High palate, Thin vermilion border, Hypertelorism, Low-set ears, Rhombencephalosynapsis, Decrease... OMIM:601853
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Visual impairment OMIM:617717
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Micr... ORPHA:564
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Low-set ears, Aplasia/Hypoplasia affecting the eye, Microgna... ORPHA:1895
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Underdeveloped nasal alae, Cryptorchidism, Atresia of the external auditory c... ORPHA:264200
Leber Congenital Amaurosis 14
Congenital blindness, Rod-cone dystrophy, Optic disc pallor, Photophobia, Retinal dystrophy, Nyct... OMIM:613341
Perlman Syndrome
Broad alveolar ridges, Deeply set eye, Low-set ears, Hyperinsulinemia, Cryptorchidism, Open mouth... ORPHA:2849
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Drooling, Open mouth, Downslanted palpebral fissures, Malar flattening, Retrogna... OMIM:613670
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Leber Congenital Amaurosis 9
Hypermetropia, Optic atrophy, Optic disc pallor, Photophobia, Macular coloboma, Nyctalopia, Atten... OMIM:608553
Micro Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Micrognathia, Microcephaly, Lissenceph... ORPHA:2510
Cat-Eye Syndrome
Microphthalmia, Chorioretinal coloboma, Iris coloboma ORPHA:195
Joubert Syndrome 14
Deeply set eye, Short philtrum, Low-set ears, Morning glory anomaly, Open mouth, Tented upper lip... OMIM:614424
Posterior Column Ataxia With Retinitis Pigmentosa
Ring scotoma, Peripheral demyelination, Optic atrophy, Blindness, Cataract, Decreased sensory ner... OMIM:609033
Joubert Syndrome With Ocular Defect
Biparietal narrowing, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum... ORPHA:220493
Dubowitz Syndrome
Broad nasal tip, Cryptorchidism, Micrognathia, Ptosis, Microcephaly, Otitis media, Protruding ear... OMIM:223370
Jaberi-Elahi Syndrome
Cerebellar atrophy, Agenesis of corpus callosum, Low-set ears, Cataract, Sparse eyebrow, Microcep... OMIM:617988
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Small earlobe, Underdeveloped nasal alae, Thin eyebrow, Agenesis of central incis... ORPHA:364577
Thanatophoric Dysplasia Type 2
Hearing impairment, Ventriculomegaly, Micromelia, Depressed nasal bridge, Hydrocephalus, Macrocep... ORPHA:93274
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Upslanted palpebral fissure, High palate, Microcornea, Cataract, Microphthalmia, Mi... ORPHA:2528
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, Short palpebral fissure, High palate, Deeply set eye, Long philtrum, Low-set ears, ... OMIM:613457
Cutis Laxa, Autosomal Recessive, Type Iib
Deeply set eye, Narrow nasal ridge, Hypotelorism, Agenesis of corpus callosum, Bulbous nose, Blue... OMIM:612940
Joubert Syndrome 7
Abnormal corpus callosum morphology, Molar tooth sign on MRI, Hypoplasia of the brainstem, Brains... OMIM:611560
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior hypopitu... OMIM:221750
Alkuraya-Kucinskas Syndrome
Upslanted palpebral fissure, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Hy... OMIM:617822
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the fovea, Hypoplasia of the iris, Cataract, Optic n... OMIM:106210
Pontocerebellar Hypoplasia Type 10
Underdeveloped nasal alae, Abnormal brainstem morphology, Long eyelashes, Wide nasal bridge, High... ORPHA:411493
Arthrogryposis, Distal, Type 2A
Long philtrum, Underdeveloped nasal alae, Cryptorchidism, Ptosis, Microcephaly, Hypoplasia of the... OMIM:193700
Robinow Syndrome, Autosomal Dominant 2
Upslanted palpebral fissure, Long philtrum, Cryptorchidism, Micrognathia, Thin upper lip vermilio... OMIM:616331
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Everted lower lip vermilion, Widely spaced teeth, Micr... ORPHA:192
Short Syndrome
Deeply set eye, Delayed eruption of teeth, Underdeveloped nasal alae, Sensorineural hearing impai... OMIM:269880
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Nyctalopia, Pigmentary retinopathy, Visual impairment OMIM:600151
Basel-Vanagaite-Smirin-Yosef Syndrome
Developmental cataract, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupi... ORPHA:464738
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Short philtrum, Low-set ears, Abnormal cerebral white matter morphol... OMIM:613443
Joubert Syndrome With Oculorenal Defect
Biparietal narrowing, Chorioretinal coloboma, Abnormality of the hypothalamus-pituitary axis, Apl... ORPHA:2318
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Short ribs, Anterior hypopituitarism, Micrognath... OMIM:241800
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Microcephaly, Basal ganglia calcification, Craniosynostosis OMIM:608432
3C Syndrome
Missing ribs, Micrognathia, High, narrow palate, Dandy-Walker malformation, Death in infancy, Mac... ORPHA:7
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Wide na... OMIM:612651
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy OMIM:264470
Uveal Melanoma
Visual loss, Zonular cataract, Photopsia, Retinal detachment, Iris melanoma, Vitreous hemorrhage,... ORPHA:39044
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Microphthalmia, Isolated 8
Microphthalmia, Retinal detachment, Optic nerve hypoplasia OMIM:615113
Chung-Jansen Syndrome
Upslanted palpebral fissure, High palate, Short philtrum, Thin vermilion border, Long philtrum, C... OMIM:617991
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Central scotoma, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal audito... OMIM:125250
Cockayne Syndrome B