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

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 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.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Microphthalmia OMIM:251505
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/Coloboma 5
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, ... OMIM:611638
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia 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
Fryns Microphthalmia Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural ... OMIM:600776
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:120433
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated 8
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... OMIM:615113
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... 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
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Coloboma, Microphthalmia, Cleft palate OMIM:600251
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Syndromic 12
Intestinal malrotation, Anophthalmia, Neonatal death, Microphthalmia, Cleft palate OMIM:615524
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... OMIM:269400
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Spina bifida, Iris coloboma, Non-midline cle... ORPHA:1104
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia ORPHA:324416
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... OMIM:604229
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris co... ORPHA:1473
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Nanophthalmos 4
Microphthalmia OMIM:615972
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Solitary Median Maxillary Central Incisor
Cleft upper lip, Decreased response to growth hormone stimulation test, Anophthalmia, Prominent m... OMIM:147250
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Nanophthalmos
Microphthalmia ORPHA:35612
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Microphthalmia, Cleft palate OMIM:613885
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Microphthalmia OMIM:601794
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Microphthalmia, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Abnormality iris morphology, Microphthalmia ORPHA:1617
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Cleft palate, Microphthalmia OMIM:164180
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Microphthalmia ORPHA:363741
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Biemond Syndrome Type 2
Coloboma, Microphthalmia ORPHA:141333
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma OMIM:212550
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... OMIM:610202
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Hyd... ORPHA:2189
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea OMIM:615877
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Corneal opacity... OMIM:120200
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Microphthalmia OMIM:274270
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Volvulus, Encephalocele, Abnormal hypothalamus morphology, Supernum... ORPHA:314621
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Cat-Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:195
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Solitary median max... ORPHA:66625
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Walker-Warburg Syndrome
Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Anophthalmia, Submucous cleft hard palat... ORPHA:899
Aniridia 3
Cataract, Aniridia OMIM:617142
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:77298
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Coloboma, Pulp calci... OMIM:166750
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thic... ORPHA:411986
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Long philtrum, Periventricular heterotopia, Thin upper lip vermilion, Short philtrum, Smooth phil... OMIM:618929
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Microphthalmia/Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma, Mac... OMIM:615145
Trisomy 13
High, narrow palate, Abnormality of the dentition, Long philtrum, Aplasia/Hypoplasia of the iris,... ORPHA:3378
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Long philtrum, Hypoplasia of the brainstem, High palate, Simplified gy... OMIM:619072
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
Ectopia Lentis 1, Isolated, Autosomal Dominant
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:129600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Death in childhood, C... OMIM:613153
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Mmep Syndrome
Microphthalmia ORPHA:3434
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Temtamy Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:1777
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft upper lip, Abnormality of the diencephalon, Cyclopia, Holoprosencephaly, Cleft palate ORPHA:2165
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Occipital encephalocele, Hypoplasia of the pons, Polymicrogyria, Type ... ORPHA:370959
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Joubert Syndrome 22
Coloboma, Microphthalmia OMIM:615665
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Coloboma, Microphthalmia, Iris transillumination defect OMIM:617306
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Encephalocele, Anophthalmia, Solitary ... OMIM:605627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft l... OMIM:601357
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Anophthalmia, Submucous c... ORPHA:2250
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly, Microphthalmia OMIM:618652
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Holoprosencephaly
Chorioretinal coloboma, Anophthalmia, Encephalocele, Microphthalmia, Cyclopia, Holoprosencephaly,... ORPHA:2162
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Death in infancy, Median cleft upper lip, Hypothalamic ham... OMIM:241800
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Coloboma, Bilateral microphthalmos OMIM:619318
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Cockayne Syndrome Type 2
Conjunctivitis, Anophthalmia, Developmental cataract ORPHA:90322
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Optic nerve hypoplasia OMIM:620609
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Baraitser-Winter Syndrome 2
Long philtrum, Thin upper lip vermilion, Orofacial cleft, Coloboma, Microphthalmia, Pachygyria, W... OMIM:614583
Manitoba Oculotrichoanal Syndrome
Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation ORPHA:485
Warburg Micro Syndrome 1
Microcornea, Developmental cataract, Microphthalmia OMIM:600118
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Temtamy Syndrome
Ectopia lentis, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Lens luxation OMIM:218340
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Corneal opacity, Microphthalmia, Antecubital pterygium OMIM:619339
Holoprosencephaly 9
Alobar holoprosencephaly, Anophthalmia, Bilateral cleft palate, Short hard palate, Anterior pitui... OMIM:610829
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Coloboma, Microphthalmia, Sclerocornea, Optic nerve ... OMIM:206900
Microphthalmia With Limb Anomalies
Cleft upper lip, Anophthalmia, Deep philtrum, Microphthalmia, High palate, Cleft palate OMIM:206920
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Microphthalmia ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Coloboma, Abnormally large globe, Microphthalmia OMIM:615249
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Frontonasal Dysplasia 1
Cataract, Coloboma, Microphthalmia OMIM:136760
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Joubert Syndrome 16
Coloboma, Encephalocele, Molar tooth sign on MRI OMIM:614465
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Vitreoretinochoroidopathy
Microphthalmia, Microcornea, Developmental cataract, Pulverulent cataract OMIM:193220
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Corneal dystrophy, Anophthalmia, Megalocornea ORPHA:1101
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Coloboma, Microphthalmia OMIM:612379
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma ORPHA:1791
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothala... ORPHA:54595
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Coloboma, Microphthalmia OMIM:167730
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
Joubert Syndrome 15
Molar tooth sign on MRI, Coloboma, Exencephaly OMIM:614464
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brainstem morphology, Dysgyria, Pa... ORPHA:467166
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Microphthalmia, Anencephaly, Cleft palate OMIM:611561
Trisomy 1Q
Narrow mouth, Anophthalmia, Hydrocephalus, Anal atresia, Cleft palate ORPHA:261344
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:302350
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Coloboma, Corneal opacity, Microphtha... ORPHA:2399
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia OMIM:152950
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Joubert Syndrome 14
Hypoplasia of the brainstem, Open mouth, Encephalocele, Tented upper lip vermilion, Short philtru... OMIM:614424
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Cataract, Microphthalmia OMIM:301108
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Bilateral microphtha... OMIM:610828
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Curry-Jones Syndrome
Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:1553
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Anteriorly placed anus, Ethmoidal encephalo... ORPHA:280195
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Coloboma, Iris coloboma, Cleft palate ORPHA:921
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Downturned corners of mouth, Long philtrum, Abnormal thalamus morphology, Intestinal... ORPHA:404440
3Q29 Microduplication Syndrome
Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal hypothalamus morpho... ORPHA:68
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Coasy Protein-Associated Neurodegeneration
Peripheral axonal neuropathy, Abnormal thalamus morphology ORPHA:397725
Schisis Association
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc... ORPHA:63862
Vacterl With Hydrocephalus
Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Spina bifida, Hydrocephalus, Microph... ORPHA:3412
Phace Syndrome
Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic... ORPHA:42775
Proboscis Lateralis
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia, Corneal opacity... ORPHA:141099
Pai Syndrome
Bifid uvula, Encephalocele, Median cleft upper lip, Abnormal oral frenulum morphology, Iris colob... ORPHA:1993
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Corneal opacity, Apl... ORPHA:649
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Bresek Syndrome
Optic nerve hypoplasia, Iris coloboma, Microphthalmia ORPHA:85284
Coach Syndrome 2
Molar tooth sign on MRI, Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Bilateral microphthalmos, Cleft upper lip, Ethmoidal encephal... OMIM:607597
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Microphthalmia, Meningocele, Anencephaly, Cleft palate OMIM:603194
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cleft palate OMIM:614120
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia ORPHA:2328
Rere-Related Neurodevelopmental Syndrome
Peters anomaly, Chorioretinal coloboma, Astigmatism, Microphthalmia, Iris coloboma ORPHA:494344
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Microphthalmia, Meningocele, Anencephaly, ... OMIM:611134
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... OMIM:278730
Cockayne Syndrome Type 1
Conjunctivitis, Cataract, Anophthalmia ORPHA:90321
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Hamartoma of tongue, Retinal coloboma, Hypothalamic hamartoma, Gray matter hetero... OMIM:619775
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Hypoplasia of the brainstem OMIM:613668
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia ORPHA:2714
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Charge Syndrome
Delayed eruption of teeth, Chorioretinal coloboma, Umbilical hernia, Cleft upper lip, Narrow mout... ORPHA:138
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Stevenson-Carey Syndrome
Coloboma, Microphthalmia OMIM:611961
Weill-Marchesani Syndrome 1
Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:277600
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hypothalamic atrophy ORPHA:2822
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Microphthalmia, Iris coloboma ORPHA:2712
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Iris coloboma, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... OMIM:601552
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Furrowed tongue, Aplasia/Hypoplasia of the iris, Anophthalmia, ... ORPHA:564
15Q24 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Thick lower lip vermilion, Myelomeningocele, Decreas... ORPHA:94065
Warburg Micro Syndrome 3
Cataract, Microcornea, Developmental cataract, Microphthalmia, Shallow anterior chamber OMIM:614222
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma, Optic nerve h... OMIM:243605
3P25.3 Microdeletion Syndrome
High, narrow palate, Downturned corners of mouth, Abnormal thalamus morphology, Thin upper lip ve... ORPHA:435638
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Verheij Syndrome
Branchial cyst, Long philtrum, Thin upper lip vermilion, Coloboma, Cleft palate, Optic nerve hypo... OMIM:615583
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Retinal coloboma, Astigmatism, Microphthalmia OMIM:618571
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft OMIM:617542
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Warburg Micro Syndrome 2
Cataract, Microcornea, Developmental cataract, Microphthalmia OMIM:614225
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Microphthalmia, Syndromic 2
Bifid uvula, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Umbil... OMIM:300166
Microphthalmia, Lenz Type
Cataract, Microcornea, Chorioretinal coloboma, Optic disc coloboma, Microphthalmia, Iris coloboma ORPHA:568
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Kapur-Toriello Syndrome
Cataract, Retinal coloboma, Iris coloboma, Microphthalmia OMIM:244300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia OMIM:616538
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cleft upper lip, Polymicrogyria, Type II lissencephaly, Hypoplasia of th... OMIM:236670
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, Polymicrogyria, Hamartoma of tongue, Periventricular nodular h... OMIM:277170
Fibular Hemimelia
Abnormal anterior chamber morphology, Anophthalmia ORPHA:93323
Baraitser-Winter Syndrome 1
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:243310
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,... OMIM:608328
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Warburg Micro Syndrome 4
Microcornea, Developmental cataract, Microphthalmia OMIM:615663
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormal optic nerve morphology, Anophthalmia, Retinopathy, Abnormality of retinal... ORPHA:2526
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Chorioretinal coloboma, Umbilical hernia, Myelome... OMIM:305600
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Frontorhiny
Cranium bifidum occultum, Hypopituitarism, Encephalocele, Basal encephalocele, Microphthalmia, Bi... ORPHA:391474
Micro Syndrome
Cataract, Microcornea, Retinal coloboma, Microphthalmia ORPHA:2510
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Microgastria, Intestinal malrotation, Esophagitis, Anophthalmia, Peri... ORPHA:2538
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Joubert Syndrome 2
Optic disc coloboma, Chorioretinal coloboma, Hypoplasia of the brainstem, Brainstem dysplasia, En... OMIM:608091
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Coloboma, Hydrocephalus, Anal atresia, Cle... OMIM:220210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal thalamus morphology, Polymicrogyria, Type II lissencephaly, Hypo... ORPHA:300570
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Fraser Syndrome 1
Tessier cleft, Abnormal cortical gyration, Dental malocclusion, Dental crowding, Bilateral microp... OMIM:219000
Joubert Syndrome 21
Optic atrophy, Retinopathy, Anophthalmia, Megalopapilla OMIM:615636
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Hypodontia, Anal atresia, Neural tube defect OMIM:119580
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Microphthalmia With Limb Anomalies
Long philtrum, Cleft upper lip, Macrodontia, True anophthalmia, Death in infancy, Hydrocephalus, ... ORPHA:1106
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Abnormality of the diencephalon ORPHA:2570
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Neonatal death OMIM:601186
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Microphthalmia, Corneal opacity, Sclerocornea ORPHA:284160
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Coloboma, Corneal opacity, Microphthalmia, Lens subluxation ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Remnants of the hyaloid vascular system, Microphthalmia, Optic nerve hy... OMIM:614643
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, High palate, Hydrocephalus, Abnormality of the diencephalon ORPHA:2720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane OMIM:613150
Fraser Syndrome
Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Umbilical hernia, Myelomeni... ORPHA:2052
Orofaciodigital Syndrome I
Abnormal cortical gyration, Carious teeth, Cleft upper lip, Myelomeningocele, Ankyloglossia, Hama... OMIM:311200
Branchio-Oculo-Facial Syndrome
Upper lip pit, Tooth agenesis, Microdontia, Orofacial cleft, Coloboma, Deep philtrum, Everted low... ORPHA:1297
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia ORPHA:264200
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia OMIM:613001
Seckel Syndrome 2
Microphthalmia OMIM:606744
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia OMIM:610651
Oculoskeletodental Syndrome
Abnormality of the dentition, Abnormal thalamus morphology, Microdontia, Oligodontia, Enamel hypo... ORPHA:557003
Neuroocular Syndrome 1
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna... OMIM:619539
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormality of neuronal migration, Ab... ORPHA:2754
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Open mouth, Coloboma, Everted lower lip vermilion, Macroglossia, Wide mouth OMIM:616789
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Charge Syndrome
Anal stenosis, Cleft upper lip, Retinal coloboma, Umbilical hernia, Decreased response to growth ... OMIM:214800
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Retinal coloboma, Hamartoma of tongue, Hypoplasia of the brainstem, Occipital men... OMIM:616546
Microphthalmia, Syndromic 6
Bifid uvula, Microglossia, Anophthalmia, Coloboma, Microphthalmia, High palate, Anterior hypopitu... OMIM:607932
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Microphthalmia OMIM:619135
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Colobo... ORPHA:959
Alg3-Cdg
Hypoplasia of the pons, Macroglossia, High palate, Abnormal uvula morphology, Neural tube defect ORPHA:79321
Papillorenal Syndrome
Cataract, Optic disc coloboma, Retinal coloboma, Microphthalmia, Lens luxation OMIM:120330
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Optic disc hypoplasia, Long philtrum, Hypoplasia of the brainstem, Fusion of the left and right t... OMIM:619306
Phace Association
Optic nerve hypoplasia, Developmental cataract, Microphthalmia OMIM:606519
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Marcus-Gunn Syndrome
Cleft lip, Coloboma, Cleft palate ORPHA:91412
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Coloboma, Molar tooth sign on MRI, Wide mouth, Esophageal... OMIM:216360
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Astigmatism, Microphthalmia OMIM:609053
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Joubert Syndrome 23
Coloboma OMIM:616490
Rhombencephalosynapsis
Fusion of the left and right thalami, Narrow mouth, Aganglionic megacolon, Tracheoesophageal fist... ORPHA:59315
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Microphthalmia OMIM:616449
Cach Syndrome
T2 hypointense thalamus, Abnormal pons morphology, Dysgyria, Atrophy/Degeneration affecting the b... ORPHA:135
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Microphthalmia OMIM:257850
Steinfeld Syndrome
Retinal coloboma, Iris coloboma, Microphthalmia OMIM:184705
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal thalamus morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Branchiooculofacial Syndrome
Abnormality of the dentition, Cleft upper lip, Retinal coloboma, Branchial anomaly, Anophthalmia,... OMIM:113620
Joubert Syndrome 37
Microphthalmia OMIM:619185
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma OMIM:309801
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ocular anterior segment dysgenesis, Bilateral microphthalmos ORPHA:369891
Holoprosencephaly 14
Cleft lip, Alobar holoprosencephaly, Periventricular heterotopia, Median cleft upper lip, Hydroce... OMIM:619895
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Optic disc coloboma, Ectopia pupillae, Corneal opacity, Microphthalmia, Lens subluxation OMIM:608940
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Dental crowding, Optic disc coloboma, Chorioretinal colob... OMIM:309800
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Marfan Syndrome
Cataract, Microspherophakia, Increased axial length of the globe, Ectopia lentis, Hypoplasia of t... OMIM:154700
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Microphthalmia OMIM:614230
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:601675
Monosomy 18P
Microphthalmia ORPHA:1598
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Martsolf Syndrome 1
Cataract, Developmental cataract, Microphthalmia OMIM:212720
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Microphthalmia OMIM:127000
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Iris coloboma OMIM:618874
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract, Microphthalmia OMIM:620185
Linear Nevus Sebaceus Syndrome
Iris coloboma, Microphthalmia ORPHA:2612
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity, Abnormal thalamic MRI sign... ORPHA:485421
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Microphthalmia OMIM:300952
Pelvis-Shoulder Dysplasia
Microcornea, Iris coloboma, Bilateral microphthalmos, Retinal coloboma ORPHA:2839
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Dental malocclusion, Abnormal thalamus morphology, Selective tooth agenesis, Fragile... ORPHA:2959
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Mycophenolate Mofetil Embryopathy
Iris coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:268249
1Q21.1 Microdeletion Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:250989
Pallister-Hall Syndrome
Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Decreased response to growth ... OMIM:146510
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia OMIM:153400
Bosma Arhinia Microphthalmia Syndrome
Cataract, Coloboma, Microphthalmia OMIM:603457
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
Holoprosencephaly 2
Bifid uvula, Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, ... OMIM:157170
Moebius Syndrome
Microphthalmia OMIM:157900
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia ORPHA:65286
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Iris coloboma, Microphthalmia ORPHA:1236
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Corneal opacity, Microphthalmia, ... ORPHA:2092
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Monosomy 13Q14
Cataract, Iris coloboma, Microphthalmia ORPHA:1587
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Downturned corners of mouth, Furrowed tongue, Branchial anomaly, Open mouth, Oligodo... ORPHA:453499
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Miscarriage ORPHA:1947
Curry-Jones Syndrome
Iris coloboma, Microphthalmia OMIM:601707
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly ORPHA:63260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
Cree Impaired Intellectual Development Syndrome
Cleft soft palate, Coloboma OMIM:606851
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Trisomy 18
Cataract, Microcornea, Microphthalmia, Cyclopia, Iris coloboma ORPHA:3380
Sponastrime Dysplasia
Cataract, Microcoria, Congenital aphakia ORPHA:93357
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palate, Submucous cleft hard ... OMIM:301043
Cat Eye Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:115470
2Q31.1 Microdeletion Syndrome
Coloboma, Iris coloboma, Optic disc coloboma, Microphthalmia ORPHA:251014
Combined Oxidative Phosphorylation Defect Type 7
Paralytic ileus, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:254930
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Bifid uvula, Decreased response to growth hormone stimulation t... ORPHA:220386
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Bifid uvula, Decreased response to growth hormone stimulation t... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Bifid uvula, Decreased response to growth hormone stimulation t... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Bifid uvula, Decreased response to growth hormone stimulation t... ORPHA:93924
Galloway-Mowat Syndrome 1
Cataract, Opacification of the corneal stroma, Hypoplasia of the iris, Microphthalmia OMIM:251300
Jacobsen Syndrome
Microcornea, Chorioretinal coloboma, Macular hypoplasia, Microphthalmia, Iris coloboma OMIM:147791
Orofaciodigital Syndrome Xiv
Cleft lip, Occipital encephalocele, Natal tooth, Optic disc coloboma, Polymicrogyria, Retinal col... OMIM:615948
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Hallermann-Streiff Syndrome
Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:234100
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Pseudotrisomy 13 Syndrome
Cyclopia, Microphthalmia OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Hypoplasia of the retina, Coloboma, Microphthalmia, Buphthalmos, Opacific... OMIM:253280
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:444013
Osteoporosis-Pseudoglioma Syndrome
Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Iris coloboma, Microphthalmia ORPHA:3186
Joubert Syndrome 5
Occipital encephalocele, Retinal coloboma, Thickened superior cerebellar peduncle, Molar tooth si... OMIM:610188
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ... ORPHA:352665
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Developmental cataract, Microphthalmia ORPHA:464738
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Microphthalmia OMIM:109400
Cohen Syndrome
Iris coloboma, Microphthalmia ORPHA:193
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Microphthalmia OMIM:201180
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal thalamus morphology, Abnormal substantia nigra morphology,... ORPHA:79139
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma OMIM:619908
Incontinentia Pigmenti
Hypoplasia of the fovea, Cataract, Keratitis, Microphthalmia OMIM:308300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris, Iris coloboma, Megalocornea OMIM:223370
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Momo Syndrome
Bilateral microphthalmos, Chorioretinal coloboma ORPHA:2563
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Microphthalmia ORPHA:364577
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity, Microphthalmia ORPHA:464
Craniofacial Microsomia 1
Occipital encephalocele, Cleft upper lip, Branchial anomaly, Anophthalmia, Hydrocephalus, Microph... OMIM:164210
Rothmund-Thomson Syndrome, Type 2
Cataract, Microcornea, Zonular cataract, Microphthalmia OMIM:268400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Fryns Syndrome
Corneal opacity, Microphthalmia ORPHA:2059
Monosomy 9Q22.3
Cataract, Microphthalmia ORPHA:77301
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia ORPHA:1692
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Microphthalmia OMIM:601812
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Iron accumulation in substantia ... ORPHA:157846
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Oculodentodigital Dysplasia
Cataract, Microcornea, Microphthalmia OMIM:164200
Mosaic Trisomy 9
Corneal opacity, Microphthalmia ORPHA:99776
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Thalamic edema, Chorioretinal atrophy, Opti... ORPHA:2177
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Chromosome 13Q14 Deletion Syndrome
Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:613884
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Retinal coloboma, Coloboma, Microphthalmia, Iris coloboma, Optic nerve hypoplasia ORPHA:508498
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Corneal ulceration ORPHA:90324
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Microphthalmia ORPHA:2166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Coloboma, Peters anomaly, Microphthalmia OMIM:616975
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Treacher-Collins Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:861
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Brain stem compression, Increas... ORPHA:2495
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Microphthalmia ORPHA:1052
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Hallermann-Streiff Syndrome