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Gene: Rax MGI:109632

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

retina and anterior neural fold homeobox

Synonyms:

ey1, E130303K03Rik, Rx

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 Rax 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.

Human diseases associated with Rax (2 diseases)
Human diseases predicted to be associated with Rax (597 diseases)

The table below shows human diseases associated to Rax by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microphthalmia, Syndromic 16		Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Nanophthalmos		Microphthalmia	ORPHA:35612

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

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma, Microcornea	OMIM:251505
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom...	OMIM:611638
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Cleft palate, Neonatal death, Microphthalmia	OMIM:615524
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Oculoauricular Syndrome	Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, Iris cyst, Macular h...	OMIM:612109
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Microphthalmia	OMIM:610125
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ...	ORPHA:1104
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris c...	ORPHA:139471
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Deep anterior chamber, Microspherophakia, Buphthalmos, Megalocornea	OMIM:251750
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Iris co...	ORPHA:1473
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Nanophthalmos 4	Microphthalmia	OMIM:615972
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m...	OMIM:147250
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Nanophthalmos	Microphthalmia	ORPHA:35612
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Microphthalmia	OMIM:613885
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma	OMIM:601794
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
2Q24 Microdeletion Syndrome	Microphthalmia, Coloboma, Cataract, Abnormality iris morphology	ORPHA:1617
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate	OMIM:164180
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma	ORPHA:363741
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Aniridia 2	Aniridia, Lens subluxation, Cataract, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Hydrolethalus	Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle...	ORPHA:2189
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Microphthalmia	OMIM:615877
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma	OMIM:274270
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Supernumerary tooth, Abnormal pituitary gland morpho...	ORPHA:314621
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Walker-Warburg Syndrome	Anophthalmia, Abnormal cortical gyration, Hydrocephalus, Submucous cleft hard palate, Polymicrogy...	ORPHA:899
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Aniridia 3	Aniridia, Cataract	OMIM:617142
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T...	OMIM:166750
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcornea, Microphthalmia, Cataract	OMIM:616171
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Hypoplasia of the pons, Thick vermilion border, Everted l...	ORPHA:411986
Cerebrooculonasal Syndrome	Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p...	ORPHA:66625
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Thin upper lip vermilion, Periventricular heterotopia, Interhypothalamic adhesion, High palate, S...	OMIM:618929
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior segment dysgenesis, ...	OMIM:615145
Trisomy 13	Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cleft palate, ...	ORPHA:3378
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, B...	OMIM:221900
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, High palate, Lo...	OMIM:619072
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Mmep Syndrome	Microphthalmia	ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hypoplasia of the pons, Hydrocephalus, Simplified gyral pattern, Coloboma, Hypoplasia of the brai...	OMIM:613153
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract	OMIM:251270
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft lip, Cleft palate, Holoprosencephaly, Cyclopia, Abnormality of the diencephalon	ORPHA:2165
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:1777
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Cofs Syndrome	Microphthalmia, Cataract	ORPHA:1466
Abruzzo-Erickson Syndrome	Coloboma, Cleft palate	OMIM:302905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t...	ORPHA:370959
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cataract	OMIM:613730
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Narrow palate, Cleft palate, ...	OMIM:605627
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Coloboma, Iris transillumination defect, Microphthalmia	OMIM:617306
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Joubert Syndrome 22	Microphthalmia, Coloboma	OMIM:615665
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Cataract, Optic nerve hypoplasia	OMIM:615181
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:48431
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Clef...	OMIM:610829
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Nance-Horan Syndrome	Microcornea, Microphthalmia, Cataract	ORPHA:627
Lissencephaly 8	Microphthalmia, Cataract	OMIM:617255
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure of eruption of p...	ORPHA:2250
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract	OMIM:613155
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Astigmatism, Cataract	OMIM:619694
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Coloboma, Peters anomaly	OMIM:618652
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Holoprosencephaly	Anophthalmia, Deep philtrum, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma, Encephaloc...	ORPHA:2162
Edict Syndrome	Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract	OMIM:614303
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Pallister-Hall-Like Syndrome	Death in infancy, Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Hypotha...	OMIM:241800
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Dystonia 30	Hypothalamic hamartoma	OMIM:619291
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium	OMIM:619339
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Cockayne Syndrome Type 2	Anophthalmia, Conjunctivitis, Developmental cataract	ORPHA:90322
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Lissencephaly, Long philtrum, Mi...	OMIM:614583
Warburg Micro Syndrome 1	Microcornea, Microphthalmia, Developmental cataract	OMIM:600118
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Kniest Dysplasia	Cataract, Aplasia/Hypoplasia of the lens, Lens luxation	ORPHA:485
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Temtamy Syndrome	Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:218340
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Coloboma, H...	OMIM:601357
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma, Micr...	OMIM:206900
Microphthalmia With Limb Anomalies	Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphthalmia	OMIM:206920
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus	ORPHA:2476
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity	ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Coloboma, Cataract, Abnormally large globe	OMIM:615249
Frontonasal Dysplasia 1	Microphthalmia, Coloboma, Cataract	OMIM:136760
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Joubert Syndrome 16	Molar tooth sign on MRI, Coloboma, Encephalocele	OMIM:614465
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Vitreoretinochoroidopathy	Microcornea, Microphthalmia, Pulverulent cataract, Developmental cataract	OMIM:193220
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Coloboma, Cataract	OMIM:612379
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Optic atrophy, Pituita...	ORPHA:54595
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth	OMIM:183300
Joubert Syndrome 15	Molar tooth sign on MRI, Coloboma, Exencephaly	OMIM:614464
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Coloboma, Conjunctival hyperemia	OMIM:167730
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract	ORPHA:93267
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Megalocornea, Anophthalmia, Corneal dystrophy	ORPHA:1101
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia	OMIM:611561
Trisomy 1Q	Anophthalmia, Hydrocephalus, Cleft palate, Narrow mouth, Anal atresia	ORPHA:261344
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Abnormal brainstem morphology, Pachygyria, Abnormal thalamus morphology, ...	ORPHA:467166
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Microphthalmia	OMIM:152950
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper...	ORPHA:2399
Nance-Horan Syndrome	Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Coloboma, Hy...	OMIM:614424
Pierpont Syndrome	Microcornea, Microphthalmia	ORPHA:487825
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Holoprosencephaly 7	Alobar holoprosencephaly, Hypoplasia of the brainstem, Holoprosencephaly, Median cleft palate, Ir...	OMIM:610828
Amoebiasis Due To Free-Living Amoebae	Abnormality of taste sensation, Abnormal medulla oblongata morphology, Abnormal midbrain morpholo...	ORPHA:68
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Diprosopus	Non-midline cleft lip, Anencephaly, Cleft palate	ORPHA:1681
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Perisylvian polymicrogyria, Anteriorly plac...	ORPHA:280195
Abruzzo-Erickson Syndrome	Cleft palate, Coloboma, Chorioretinal coloboma, Iris coloboma, Abnormal palate morphology	ORPHA:921
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Downturned corners...	ORPHA:404440
Pierpont Syndrome	Microcornea, Microphthalmia	OMIM:602342
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Coasy Protein-Associated Neurodegeneration	Peripheral axonal neuropathy, Abnormal thalamus morphology	ORPHA:397725
Pai Syndrome	Encephalocele, Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Ir...	ORPHA:1993
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesopha...	ORPHA:3412
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic disc coloboma, Microcornea...	ORPHA:141099
Norrie Disease	Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corneal opacity, Scleroc...	ORPHA:649
Schisis Association	Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle...	ORPHA:63862
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Iris coloboma	ORPHA:85284
Coach Syndrome 2	Molar tooth sign on MRI, Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Corneal opacity	ORPHA:2788
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	ORPHA:2328
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Cleft palate	OMIM:614120
Rere-Related Neurodevelopmental Syndrome	Astigmatism, Chorioretinal coloboma, Peters anomaly, Microphthalmia, Iris coloboma	ORPHA:494344
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Molar tooth sign on MRI, Mi...	OMIM:611134
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia	OMIM:603194
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu...	OMIM:278730
Congenital Disorder Of Deglycosylation 2	Hamartoma of tongue, Macroglossia, Gray matter heterotopia, High palate, Retinal coloboma, Hypoth...	OMIM:619775
Cockayne Syndrome Type 1	Anophthalmia, Conjunctivitis, Cataract	ORPHA:90321
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Histiocytoid Cardiomyopathy	Microphthalmia, Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Weill-Marchesani Syndrome 1	Shallow anterior chamber, Microspherophakia, Ectopia lentis, Cataract	OMIM:277600
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Hypoplasia of the brainstem, Decreased thalamic volume	OMIM:613668
15Q24 Microdeletion Syndrome	Smooth philtrum, Decreased response to growth hormone stimulation test, Abnormality of the dentit...	ORPHA:94065
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Microcornea, Microphthalmia, Iris coloboma	ORPHA:3301
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Abnormal substantia nigra morphology	ORPHA:2822
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Cataract...	OMIM:609049
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2712
Adams-Oliver Syndrome 2	Microphthalmia, Developmental cataract	OMIM:614219
Stevenson-Carey Syndrome	Microphthalmia, Coloboma	OMIM:611961
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Meckel Syndrome	Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Anencephaly, Cleft ...	ORPHA:564
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Cleft palate, Dow...	ORPHA:435638
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Microphthalmia, Iris...	OMIM:243605
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Warburg Micro Syndrome 3	Cataract, Developmental cataract, Microcornea, Shallow anterior chamber, Microphthalmia	OMIM:614222
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Optic nerve hypoplasia, Cleft palate, Coloboma, Long ph...	OMIM:615583
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Cataract	OMIM:614105
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma	ORPHA:649929
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Cataract	OMIM:618571
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To	Nonarteritic anterior ischemic optic neuropathy	OMIM:258660
Warburg Micro Syndrome 2	Microcornea, Microphthalmia, Cataract, Developmental cataract	OMIM:614225
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Cataract, Developmental cataract	OMIM:616395
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Aquedu...	ORPHA:138
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Fusion of the left and right thalami, Midline brainstem cleft	OMIM:617542
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Congenital Fibrinogen Deficiency	Microphthalmia, Developmental cataract	ORPHA:335
Kapur-Toriello Syndrome	Microphthalmia, Cataract, Retinal coloboma, Iris coloboma	OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Cleft upper lip, ...	OMIM:236670
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract	OMIM:214150
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Remnants of the hyaloid vascular system, Persistence of ...	OMIM:300166
Fibular Hemimelia	Anophthalmia, Abnormal anterior chamber morphology	ORPHA:93323
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ...	OMIM:277170
Warburg Micro Syndrome 4	Microcornea, Microphthalmia, Developmental cataract	OMIM:615663
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Focal Dermal Hypoplasia	Delayed eruption of teeth, Anophthalmia, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ...	OMIM:305600
Baraitser-Winter Syndrome 1	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:243310
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial cleft, Molar tooth s...	ORPHA:220497
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Fraser Syndrome	Encephalocele, Death in infancy, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, M...	ORPHA:2052
Frontorhiny	Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Hypop...	ORPHA:391474
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:163649
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hydrocephalus, Cleft palate, Coloboma, Ana...	OMIM:220210
Micro Syndrome	Microcornea, Microphthalmia, Cataract, Retinal coloboma	ORPHA:2510
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Orofacial cleft, Retinal colob...	ORPHA:220493
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Abnormal corti...	OMIM:219000
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Simplified gyral pattern, Hypoplasia of the brainstem, Normal pressure hy...	ORPHA:300570
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Joubert Syndrome 21	Retinopathy, Anophthalmia, Optic atrophy, Megalopapilla	OMIM:615636
Joubert Syndrome 2	Encephalocele, Brainstem dysplasia, Hydrocephalus, Optic disc coloboma, Hypoplasia of the brainst...	OMIM:608091
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Intestinal malrotation, Abnormal cortical gyration, Hiatus hernia, Esophageal atres...	ORPHA:2538
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia	OMIM:119580
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Microphthalmia With Limb Anomalies	Death in infancy, Macrodontia, Cleft upper lip, Hydrocephalus, Cleft palate, Thin vermilion borde...	ORPHA:1106
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2570
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation	ORPHA:284160
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Microphthalmia, Syndromic 9	Neonatal death, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Peters anomaly, Microp...	OMIM:614643
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Srd5A3-Cdg	Coloboma, Oligodontia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test	ORPHA:324737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Branchio-Oculo-Facial Syndrome	Deep philtrum, Non-midline cleft lip, Orofacial cleft, Coloboma, Tooth agenesis, High palate, Eve...	ORPHA:1297
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia	ORPHA:85167
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of the diencephalon, High palate, Abnormal brainstem morphology	ORPHA:2720
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia	ORPHA:264200
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Limbal dermoid, Sclerocornea	OMIM:613001
Orofaciodigital Syndrome I	Median cleft lip, Abnormal cortical gyration, Hamartoma of tongue, Cleft upper lip, Carious teeth...	OMIM:311200
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Abnormal thalamus morp...	ORPHA:557003
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity	ORPHA:363717
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Open mouth	OMIM:616789
Orofaciodigital Syndrome Type 6	Hamartoma of tongue, Abnormality of neuronal migration, Midline notch of upper alveolar ridge, Cl...	ORPHA:2754
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Cataract	OMIM:610651
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca	OMIM:234050
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Accessory oral frenulum, Hydrocephalus, Anencephaly, Cleft palate, Hypoplasi...	OMIM:616546
Charge Syndrome	Anal stenosis, Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper l...	OMIM:214800
Marcus-Gunn Syndrome	Coloboma, Cleft lip, Cleft palate	ORPHA:91412
Ritscher-Schinzel Syndrome 3	Microphthalmia, Chorioretinal coloboma	OMIM:619135
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo...	ORPHA:959
Microphthalmia, Syndromic 6	Anophthalmia, Cleft palate, Coloboma, High palate, Microphthalmia, Microglossia, Anterior hypopit...	OMIM:607932
Alg3-Cdg	Hypoplasia of the pons, Macroglossia, Neural tube defect, High palate, Abnormal uvula morphology	ORPHA:79321
Papillorenal Syndrome	Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia	OMIM:120330
Acrocallosal Syndrome	Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi...	OMIM:200990
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Thin upper lip vermilion, Exaggerated cupid's bow, Optic disc hypoplasia, Hypoplasia of the brain...	OMIM:619306
Phace Association	Microphthalmia, Optic nerve hypoplasia, Developmental cataract	OMIM:606519
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Esophageal varix, Wide mouth, Coloboma, Molar tooth sign ...	OMIM:216360
Fanconi Anemia, Complementation Group I	Microphthalmia, Astigmatism, Optic nerve hypoplasia	OMIM:609053
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Joubert Syndrome 23	Coloboma	OMIM:616490
X-Linked Dominant Chondrodysplasia Punctata	Microcornea, Microphthalmia, Cataract	ORPHA:35173
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophagea...	ORPHA:59315
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Cach Syndrome	T2 hypointense thalamus, Abnormal pons morphology, Dysgyria, Atrophy/Degeneration affecting the b...	ORPHA:135
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Cataract	OMIM:616449
Spinocerebellar Ataxia With Epilepsy	Movement abnormality of the tongue, Focal T2 hyperintense thalamic lesion	ORPHA:254881
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Corneal opacity, Sclerocornea, Microphthalmia, Posterior embryotoxon	ORPHA:2556
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane	OMIM:257850
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Holoprosencephaly 14	Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hydrocephalus, Perive...	OMIM:619895
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology	ORPHA:88619
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Branchiooculofacial Syndrome	Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,...	OMIM:113620
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion	OMIM:619057
Pallister-Hall Syndrome	Natal tooth, Decreased response to growth hormone stimulation test, Cleft upper lip, Cleft palate...	OMIM:146510
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta...	OMIM:309800
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:309801
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cataract, Sclerocornea	OMIM:614230
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma	OMIM:618874
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion	OMIM:613724
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the...	OMIM:616300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos	ORPHA:369891
Trichothiodystrophy 1, Photosensitive	Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract	OMIM:601675
Monosomy 18P	Microphthalmia	ORPHA:1598
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t...	OMIM:154700
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma	ORPHA:2612
Atelis Syndrome 2	Microphthalmia, Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Martsolf Syndrome 1	Microphthalmia, Cataract, Developmental cataract	OMIM:212720
Progeria-Short Stature-Pigmented Nevi Syndrome	Selective tooth agenesis, Dental malocclusion, Hypodontia, Abnormal thalamus morphology, Bifid uv...	ORPHA:2959
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormal thalamic MRI sign...	ORPHA:485421
Mycophenolate Mofetil Embryopathy	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:268249
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Miscarriage	ORPHA:1947
Pelvis-Shoulder Dysplasia	Microcornea, Bilateral microphthalmos, Retinal coloboma, Iris coloboma	ORPHA:2839
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Microphthalmia	OMIM:156610
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:607323
1Q21.1 Microdeletion Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:250989
Lymphedema-Distichiasis Syndrome	Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions	OMIM:153400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
3Q29 Microdeletion Syndrome	Microphthalmia, Cataract	ORPHA:65286
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Adams-Oliver Syndrome	Microphthalmia, Cataract	ORPHA:974
Moebius Syndrome	Microphthalmia	OMIM:157900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Developmental cataract	OMIM:127000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Panhypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone...	ORPHA:95513
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1236
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Coloboma, Cataract	OMIM:603457
Adenohypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone...	ORPHA:95512
Focal Dermal Hypoplasia	Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Chorioretinal coloboma, Microphthalmia, ...	ORPHA:2092
Monosomy 13Q14	Microphthalmia, Cataract, Iris coloboma	ORPHA:1587
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Coloboma, Oligodontia, Macroglossia, ...	ORPHA:453499
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Anal atresia	ORPHA:63260
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Cataract	OMIM:302960
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Trisomy 18	Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3380
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Submuc...	OMIM:301043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Cataract	OMIM:253800
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Hamartoma of tongue, Periventricular heterotopia, Cleft lip...	OMIM:615948
Cat Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:115470
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Cataract, Opacification of the corneal stroma	OMIM:251300
2Q31.1 Microdeletion Syndrome	Microphthalmia, Coloboma, Optic disc coloboma, Iris coloboma	ORPHA:251014
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity	ORPHA:254930
Semilobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal ...	ORPHA:220386
Jacobsen Syndrome	Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:147791
Alobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal ...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal ...	ORPHA:93924
Cree Mental Retardation Syndrome	Coloboma, Cleft soft palate	OMIM:606851
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Coloboma, Hypoplasia of the retina, Opacification of the corneal stroma, M...	OMIM:253280
Pseudotrisomy 13 Syndrome	Microphthalmia, Cyclopia	OMIM:264480
Hallermann-Streiff Syndrome	Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:234100
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Focal T2 hyperintense thalamic lesion	OMIM:619046
Combined Oxidative Phosphorylation Defect Type 23	Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity	ORPHA:444013
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n...	ORPHA:352665
Joubert Syndrome 5	Occipital encephalocele, Cleft palate, Retinal coloboma, Molar tooth sign on MRI, Thickened super...	OMIM:610188
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Microphthalmia, Developmental cataract	ORPHA:464738
Cohen Syndrome	Microphthalmia, Iris coloboma	ORPHA:193
Basal Cell Nevus Syndrome 1	Microphthalmia, Cataract, Iris coloboma	OMIM:109400
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Japanese Encephalitis	Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons morphology, Foc...	ORPHA:79139
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Keratitis, Cataract	OMIM:308300
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Iris atrophy	OMIM:201180
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothalamic hamartoma	OMIM:619908
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Rothmund-Thomson Syndrome, Type 2	Microcornea, Microphthalmia, Cataract, Zonular cataract	OMIM:268400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Mosaic Trisomy 1	Microphthalmia, Opacification of the corneal stroma	ORPHA:1692
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Cleft upper lip, Hydrocephalus, Cleft palate, Wide mouth, ...	OMIM:164210
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion	ORPHA:79264
Incontinentia Pigmenti	Keratitis, Microphthalmia, Cataract, Corneal opacity	ORPHA:464
Neuroferritinopathy	T2 hypointense thalamus, Iron accumulation in substantia nigra, Abnormal thalamic MRI signal inte...	ORPHA:157846
Fryns Syndrome	Microphthalmia, Corneal opacity	ORPHA:2059
Monosomy 9Q22.3	Microphthalmia, Cataract	ORPHA:77301
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Mosaic Trisomy 9	Microphthalmia, Corneal opacity	ORPHA:99776
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Hamartoma of tongue, Dilated third ventricle, Periventricular heterotopi...	ORPHA:434179
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw	ORPHA:199276
Oculodentodigital Dysplasia	Microcornea, Microphthalmia, Cataract	OMIM:164200
Kabuki Syndrome	Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, Orofacial cleft...	ORPHA:2322
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:613884
Cousin Syndrome	Microcornea, Microphthalmia	OMIM:260660
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Coloboma, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:508498
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Cyclopia	ORPHA:2166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Coloboma, Peters anomaly	OMIM:616975
Hydranencephaly	Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Dysgenesis of the thalamus, Atroph...	ORPHA:2177
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Cataract	ORPHA:306542
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p...	ORPHA:2495
Treacher-Collins Syndrome	Microphthalmia, Cataract, Iris coloboma	ORPHA:861
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Cockayne Syndrome Type 3	Cataract, Microcornea, Keratoconjunctivitis sicca, Lentiglobus, Microphthalmia, Corneal ulceration	ORPHA:90324
Tetraamelia Syndrome 1	Microphthalmia, Cataract	OMIM:273395
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Cataract, Corneal opacity	ORPHA:1052
Aicardi Syndrome	Microphthalmia, Optic disc coloboma, Cataract	OMIM:304050
Hallermann-Streiff Syndrome	Microphthalmia, Developmental cataract	ORPHA:2108
Mend Syndrome	Microphthalmia, Cataract	ORPHA:401973
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Cleft palate, Death in childhood, Coloboma, High palate, S...	OMIM:309500
Cockayne Syndrome B	Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma,...	OMIM:133540
Aicardi Syndrome	Microphthalmia, Optic disc coloboma, Chorioretinal coloboma	ORPHA:50
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Slc35A2-Cdg	Abnormal midbrain morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:356961
Acute Disseminated Encephalomyelitis	Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity	ORPHA:83597
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce...	OMIM:263650
Trichothiodystrophy	Bilateral microphthalmos, Developmental cataract, Microcornea, Keratoconjunctivitis sicca, Astigm...	ORPHA:33364
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Intestinal pseudo-obstruction, Abnormal thalamic MRI signal intensity	ORPHA:70595
Leigh Syndrome	Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Abnormal thalami...	ORPHA:506
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Developmental cataract	ORPHA:93325
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Cataract	OMIM:620005
Pallister-Hall Syndrome	Natal tooth, Hypopituitarism, Accessory oral frenulum, Secondary growth hormone deficiency, Cleft...	ORPHA:672
Holoprosencephaly 1	Microphthalmia, Cyclopia	OMIM:236100
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Cockayne Syndrome	Cataract, Band keratopathy, Developmental cataract, Abnormal cornea morphology, Lentiglobus, Kera...	ORPHA:191
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Roberts Syndrome	Microphthalmia, Cataract	ORPHA:3103
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Dental malocclusion, Alveolar ridge overgro...	ORPHA:444072
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology	ORPHA:206448
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus, Microphthalmia	ORPHA:534
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Williams Syndrome	Rectal prolapse, Microdontia, Spina bifida occulta, Abnormality of the diencephalon, Abnormal den...	ORPHA:904
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Astigmatism, Cataract	ORPHA:84
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Microphthalmia	OMIM:616734
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:620186
Myhre Syndrome	Microphthalmia, Cataract	OMIM:139210
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:235730
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Fryns Syndrome	Microphthalmia, Opacification of the corneal stroma	OMIM:229850
22Q11.2 Deletion Syndrome	Microphthalmia, Posterior embryotoxon, Cataract, Corneal neovascularization	ORPHA:567
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Antecubital pterygium	OMIM:609945
Meckel Syndrome, Type 1	Microphthalmia, Iris coloboma	OMIM:249000
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Aceruloplasminemia	Abnormal thalamic MRI signal intensity	ORPHA:48818
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Sclerocornea, Cataract	ORPHA:3472
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity	ORPHA:845
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Cataract	OMIM:256520
Townes-Brocks Syndrome	Cataract, Chorioretinal coloboma, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:857
Monosomy 9P	Microphthalmia	ORPHA:261112
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Intestinal perforation, Thalamic hemorrhage	ORPHA:464321
Witteveen-Kolk Syndrome	Anisocoria, Microphthalmia, Cataract, Iris coloboma	OMIM:613406
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Coloboma, Opacification of the corneal stroma, Microphthalmia	OMIM:268300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Decreased thalamic volume	ORPHA:168577
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Celiac disea...	ORPHA:293987
Degcags Syndrome	Microphthalmia	OMIM:619488
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Re...	ORPHA:261552
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Retinal coloboma, Optic nerve hypoplasia	ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:261537
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Mowat-Wilson Syndrome	Cataract, Astigmatism, Retinal coloboma, Axenfeld anomaly, Microphthalmia, Iris coloboma	ORPHA:2152
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680

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 Rax

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 Rax.

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

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MGI Allele	Allele Type	Produced
Rax^{tm465423(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Rax^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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