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, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia OMIM:616428
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... OMIM:611638
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Anencephaly 2
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip, Anophthalmia OMIM:619452
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, M... ORPHA:83461
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Microphthalmia, Posterior synechia... OMIM:610256
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea 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
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:120433
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Microphthalmia, Isolated 8
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... OMIM:615113
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Bilateral cleft lip and palate, Microphthalmia OMIM:600776
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Iris coloboma, Microphthalmia, Peters anomaly, Coloboma OMIM:610023
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... 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, Corneal opacity, Microphthalmia ORPHA:2432
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Syndromic 12
Microphthalmia, Cleft palate, Neonatal death, Intestinal malrotation, Anophthalmia OMIM:615524
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Anterior synechiae of the anterior chamber,... OMIM:269400
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma OMIM:600251
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Oculoauricular Syndrome
Cataract, Iris cyst, Iris coloboma, Microphthalmia, Microphakia, Retinal coloboma, Phthisis bulbi... OMIM:612109
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Microphthalmia, Ocular anterior segment dysgenesis ORPHA:324416
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:300915
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Microphthalmia, Hypoplasia of the iris, Anterior synechiae of the anteri... OMIM:604229
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Anophthalmia Plus Syndrome
Iris coloboma, Bilateral cleft lip and palate, Spina bifida, Cleft palate, Non-midline cleft lip,... ORPHA:1104
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:614819
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Chorioretinal coloboma, Anophthalmia, Micr... ORPHA:139471
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Microphthalmia, Syndromic 5
Cataract, Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Microcornea, Coloboma OMIM:610125
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Posterior embry... ORPHA:1473
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Solitary Median Maxillary Central Incisor
Cyclopia, Solitary median maxillary central incisor, Decreased response to growth hormone stimula... OMIM:147250
Nanophthalmos 4
Microphthalmia OMIM:615972
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Nanophthalmos
Microphthalmia ORPHA:35612
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Microphthalmia, Coloboma ORPHA:1617
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Microphthalmia, Cleft palate, Cleft upper lip, Anophthalmia OMIM:613885
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma, Microphthalmia OMIM:601794
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Microphthalmia, Corneal arcus, Sclerocornea, Corneal opacity, Flat c... OMIM:217300
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Cataract, Iris hypopigmentation, Microphthalmia ORPHA:85194
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia, Cleft palate OMIM:164180
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Microphthalmia ORPHA:363741
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hydrolethalus
Bifid uvula, Unilateral cleft lip, Hydrocephalus, Submucous cleft hard palate, Microphthalmia, Cl... ORPHA:2189
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Chorioretinal coloboma,... ORPHA:137902
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis, Increased axial length of the globe OMIM:110150
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Retinitis Pigmentosa 71
Optic disc pallor, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Chorioretinal coloboma OMIM:212550
Biemond Syndrome Type 2
Microphthalmia, Coloboma ORPHA:141333
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Ectopia pupillae, Microphthalmia, Sclerocornea, Anophthalmia, Microcornea, Coloboma OMIM:615877
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Corneal opacity,... OMIM:610202
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Duplication Of The Pituitary Gland
Encephalocele, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Volvulus, Ab... ORPHA:314621
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia, Chorioretinal coloboma, Corneal opacity, Optic disc coloboma... OMIM:120200
Otodental Syndrome
Lens coloboma, Cataract, Iris coloboma, Microphthalmia, Retinal coloboma, Microcornea ORPHA:2791
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Microphthalmia OMIM:267760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Microphthalmia, Isolated 5
Cataract, Microphthalmia OMIM:611040
Cat-Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:195
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Iris coloboma, Bifid uvula, Hydrocephalus... ORPHA:899
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Anophthalmia, Iris coloboma, Microphthalmia ORPHA:77298
Aniridia 3
Cataract, Aniridia OMIM:617142
Leptin Receptor Deficiency
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... OMIM:614963
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... OMIM:166750
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria OMIM:257910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion bo... ORPHA:411986
Cerebrooculonasal Syndrome
High palate, Widely spaced teeth, Solitary median maxillary central incisor, Microdontia, U-Shape... ORPHA:66625
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microphthalmia, Buphthalmos, Persistent ... ORPHA:91495
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Long philtrum, Smooth philtrum, Interhypothalamic adhesion, Short philtrum, Thin upp... OMIM:618929
Trisomy 13
Abnormality of the dentition, Iris coloboma, Microphthalmia, Cleft palate, High, narrow palate, L... ORPHA:3378
Microphthalmia, Isolated, With Coloboma 9
Iris coloboma, Microphthalmia, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segme... OMIM:615145
Nail-Patella Syndrome
Cataract, Lester's sign, Microphakia, Keratoconus, Microcornea, Antecubital pterygium OMIM:161200
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract, Persistent pupillary membrane ORPHA:1067
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Shallow ante... OMIM:221900
Neurodevelopmental Disorder With Seizures And Brain Atrophy
High palate, Simplified gyral pattern, Decreased thalamic volume, Long philtrum, Hypoplasia of th... OMIM:619072
Mmep Syndrome
Microphthalmia ORPHA:3434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Death in childhood, Type II lissencephaly, Hydrocephalus, Hypoplasia of the pons, Simplified gyra... OMIM:613153
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Microphthalmia OMIM:251270
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Holoprosencephaly, Cleft palate, Median cleft lip, Abnormality of the diencephalon ORPHA:2165
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Cofs Syndrome
Cataract, Microphthalmia ORPHA:1466
Temtamy Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:1777
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... ORPHA:69736
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Type II lissencephaly, Polymicrogyria, Hydrocephalus, Olivopontocerebellar hypoplas... ORPHA:370959
Norrie Disease
Cataract, Microphthalmia, Buphthalmos, Hypoplasia of the iris, Shallow anterior chamber, Corneal ... OMIM:310600
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia OMIM:613730
Cerebrooculonasal Syndrome
Encephalocele, High palate, Iris coloboma, Hydrocephalus, Broad philtrum, Solitary median maxilla... OMIM:605627
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microphthalmia, Iris transillumination defect, Microcornea, Coloboma OMIM:617306
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Opacification of the corneal stroma, Iris coloboma, Microphthalmia OMIM:169550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:48431
Nance-Horan Syndrome
Cataract, Microcornea, Microphthalmia ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Iris coloboma, Bifid uvula, Submucous cleft hard palate, Microphthalmia, Cleft... ORPHA:2250
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Developmental cataract, Microphthalmia OMIM:613155
Holoprosencephaly 9
Abnormal cortical gyration, Bilateral cleft lip and palate, Anterior pituitary agenesis, Short ha... OMIM:610829
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract, Microphthalmia OMIM:610756
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Microphthalmia OMIM:619694
Edict Syndrome
Astigmatism, Anterior polar cataract, Hypoplasia of the iris, Keratoconus, Microcornea OMIM:614303
Holoprosencephaly
Tooth agenesis, Median cleft lip and palate, Solitary median maxillary central incisor, Intestina... ORPHA:2162
Pallister-Hall-Like Syndrome
Hydrocephalus, Occipital encephalocele, Death in infancy, Cleft palate, Hypothalamic hamartoma, M... OMIM:241800
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos, Coloboma OMIM:619318
Lissencephaly 8
Cataract, Microphthalmia OMIM:617255
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia, Coloboma OMIM:618652
Bartsocas-Papas Syndrome 2
Axillary pterygium, Microphthalmia, Popliteal pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Cockayne Syndrome Type 2
Developmental cataract, Conjunctivitis, Anophthalmia ORPHA:90322
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Microphthalmia OMIM:618805
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Non-midline cleft lip ORPHA:2476
Baraitser-Winter Syndrome 2
Microphthalmia, Long philtrum, Pachygyria, Lissencephaly, Thin upper lip vermilion, Wide mouth, O... OMIM:614583
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Warburg Micro Syndrome 1
Developmental cataract, Microcornea, Microphthalmia OMIM:600118
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Kniest Dysplasia
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation ORPHA:485
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia, Chorioretinal coloboma OMIM:218340
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Bilateral cleft lip, Bilateral cleft palate, Cleft upp... OMIM:601357
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Anophthalmia... OMIM:206900
Microphthalmia With Limb Anomalies
High palate, Deep philtrum, Microphthalmia, Cleft palate, Cleft upper lip, Anophthalmia OMIM:206920
Craniopharyngioma
Hypopituitarism, Increased circulating prolactin concentration, Abnormal hypothalamus morphology,... ORPHA:54595
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Microphthalmia ORPHA:290
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Microphthalmia, Abnormally large globe, Coloboma OMIM:615249
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Frontonasal Dysplasia 1
Cataract, Microphthalmia, Coloboma OMIM:136760
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Coloboma OMIM:614465
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Vitreoretinochoroidopathy
Developmental cataract, Pulverulent cataract, Microcornea, Microphthalmia OMIM:193220
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microphthalmia, Coloboma OMIM:612379
Splenogonadal Fusion With Limb Defects And Micrognathia
Stillbirth, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Keratoconjunctivitis sicca, Corneal dystrophy, Microphthalmia, Sclerocornea, Microcornea ORPHA:1806
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Aniridia, Megalocornea ORPHA:1101
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Hypoplasia of the pons, Ethmoidal encephalocele, Anterior hypopituitarism... ORPHA:280195
Diprosopus
Anencephaly, Non-midline cleft lip, Cleft palate ORPHA:1681
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia ORPHA:93267
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Coloboma OMIM:167730
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Iris coloboma, Microphthalmia, Limbal dermoid, Microcornea ORPHA:1791
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Cleft palate, Cleft upper lip OMIM:611561
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology, Dysgyria, Pachygyria, Agyria, Abnormality ... ORPHA:467166
Trisomy 1Q
Anal atresia, Hydrocephalus, Cleft palate, Narrow mouth, Anophthalmia ORPHA:261344
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia, Corneal opacity, Colo... ORPHA:2399
Nance-Horan Syndrome
Developmental cataract, Posterior Y-sutural cataract, Microcornea, Microphthalmia OMIM:302350
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly, Coloboma OMIM:614464
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Joubert Syndrome 14
Encephalocele, Open mouth, Hydrocephalus, Meningocele, Microphthalmia, Cleft palate, Tented upper... OMIM:614424
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Holoprosencephaly 7
Unilateral cleft lip, Median cleft lip and palate, Solitary median maxillary central incisor, Cle... OMIM:610828
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Astigmatism, Microphthalmia, Corneal opacity, Myopic astigmatism, Microcornea OMIM:152950
Pierpont Syndrome
Microcornea, Microphthalmia ORPHA:487825
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal pons morphology, Abnormal hypothalamus morpholo... ORPHA:68
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Curry-Jones Syndrome
Optic disc coloboma, Iris coloboma, Microphthalmia ORPHA:1553
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Iris coloboma, Cleft palate, Chorioretinal coloboma, Coloboma ORPHA:921
Vacterl With Hydrocephalus
Esophageal atresia, Anal atresia, Spina bifida, Arrhinencephaly, Hydrocephalus, Aqueductal stenos... ORPHA:3412
Pierpont Syndrome
Microcornea, Microphthalmia OMIM:602342
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Deep philtrum, Microphthalmia, Cleft palate, Downturned corners of mouth, Long philt... ORPHA:404440
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Cleft palate OMIM:614120
3Q29 Microduplication Syndrome
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Aniridia ORPHA:251038
Schisis Association
Encephalocele, Anal atresia, Unilateral cleft lip, Spina bifida, Cleft palate, Anencephaly, Trach... ORPHA:63862
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Phace Syndrome
Lens coloboma, Cataract, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Het... ORPHA:42775
Pai Syndrome
Encephalocele, Iris coloboma, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology, Media... ORPHA:1993
Proboscis Lateralis
Cataract, Cyclopia, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Chorioretinal coloboma... ORPHA:141099
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Chromosome 17Q12 Duplication Syndrome
Peters anomaly, Microphthalmia OMIM:614526
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus OMIM:613763
Coasy Protein-Associated Neurodegeneration
Peripheral axonal neuropathy, Abnormality of thalamus morphology ORPHA:397725
Bresek Syndrome
Microphthalmia, Iris coloboma, Optic nerve hypoplasia ORPHA:85284
Coach Syndrome 2
Molar tooth sign on MRI, Chorioretinal coloboma, Hydrocephalus, Coloboma OMIM:619111
Norrie Disease
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal pupil morphology, Microphthalmia, ... ORPHA:649
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Van Der Woude Syndrome 2
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip OMIM:606713
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma OMIM:616722
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Microphthalmia, Cleft palate, Anencephaly, Molar tooth... OMIM:611134
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Microphthalmia ORPHA:2788
Kapur-Toriello Syndrome
Iris coloboma, Microphthalmia, Retinal coloboma ORPHA:2328
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Microphthalmia, Cleft palate, Anencephaly, Intestinal malrotation OMIM:603194
Rere-Related Neurodevelopmental Syndrome
Iris coloboma, Astigmatism, Microphthalmia, Chorioretinal coloboma, Peters anomaly ORPHA:494344
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Microphthalmia, Conjunctivitis, Corneal neovascu... OMIM:278730
Congenital Disorder Of Deglycosylation 2
Macroglossia, High palate, Polymicrogyria, Gray matter heterotopia, Hamartoma of tongue, Hypothal... OMIM:619775
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Cockayne Syndrome Type 1
Cataract, Conjunctivitis, Anophthalmia ORPHA:90321
Anterior Segment Dysgenesis 1
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... OMIM:107250
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Decreased thalamic volume OMIM:613668
Histiocytoid Cardiomyopathy
Megalocornea, Congenital aphakia, Corneal opacity, Microphthalmia ORPHA:137675
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Abnormal substantia nigra morphology ORPHA:2822
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... ORPHA:888
15Q24 Microdeletion Syndrome
Anal atresia, Abnormality of the dentition, Abnormal palate morphology, Myelomeningocele, Decreas... ORPHA:94065
Oculofaciocardiodental Syndrome
Cataract, Ectopia lentis, Iris coloboma, Microphthalmia, Microcornea ORPHA:2712
Tetraamelia-Multiple Malformations Syndrome
Cataract, Iris coloboma, Septo-optic dysplasia, Microphthalmia, Microcornea ORPHA:3301
Pierson Syndrome
Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Microphthalmia, Microcoria, Hypoplasia... OMIM:609049
Weill-Marchesani Syndrome 1
Cataract, Shallow anterior chamber, Ectopia lentis, Microspherophakia OMIM:277600
Meckel Syndrome
Encephalocele, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Lobar holoprosencephaly, Micropht... ORPHA:564
Exudative Vitreoretinopathy 2, X-Linked
Shallow anterior chamber, Microphthalmia OMIM:305390
3P25.3 Microdeletion Syndrome
Pyloric stenosis, Deep philtrum, Microphthalmia, Cleft palate, High, narrow palate, Downturned co... ORPHA:435638
Adams-Oliver Syndrome 2
Developmental cataract, Microphthalmia OMIM:614219
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Microphthalmia, Leukocoria ORPHA:2714
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Ectopia lentis, Macular agenesis, Corneal er... OMIM:106210
Warburg Micro Syndrome 3
Cataract, Microphthalmia, Shallow anterior chamber, Developmental cataract, Microcornea OMIM:614222
Stromme Syndrome
Cataract, Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peter... OMIM:243605
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Verheij Syndrome
Optic nerve hypoplasia, Cleft palate, Long philtrum, Branchial cyst, Thin upper lip vermilion, Co... OMIM:615583
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Microphthalmia OMIM:614105
Orofaciodigital Syndrome Vi
High palate, Polymicrogyria, Periventricular nodular heterotopia, Arrhinencephaly, Incomplete cle... OMIM:277170
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Fusion of the left and right thalami, Hydrocephalus OMIM:617542
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Retinal coloboma, Microphthalmia OMIM:618571
Trichothiodystrophy 3, Photosensitive
Cataract, Developmental cataract, Microphthalmia OMIM:616395
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Microcornea, Microphthalmia OMIM:614225
Charge Syndrome
Abnormal soft palate morphology, Iris coloboma, Aqueductal stenosis, Holoprosencephaly, Microphth... ORPHA:138
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Esophageal atresia, Anal atresia, Intestinal malrotation, Rectal atre... ORPHA:2538
Sandestig-Stefanova Syndrome
Developmental cataract, Microphthalmia OMIM:618804
Congenital Fibrinogen Deficiency
Developmental cataract, Microphthalmia ORPHA:335
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Microphthalmia, Spontaneous conjunctival filtering bleb, ... OMIM:601552
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Non Rare In Europe: Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus ORPHA:759
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Microphthalmia, Retinal coloboma OMIM:244300
Microphthalmia, Lenz Type
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma, Microcornea ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Type II lissencephaly, Anal atresia, Polymicrogyria, Hydrocephalus, Occipital encephalocele, Micr... OMIM:236670
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Microphthalmia, Buphthalmos OMIM:616538
Cerebrooculofacioskeletal Syndrome 1
Cataract, Microphthalmia OMIM:214150
Microphthalmia, Syndromic 2
Oligodontia, Iris coloboma, Bifid uvula, Umbilical hernia, Persistence of primary teeth, Submucou... OMIM:300166
Fibular Hemimelia
Abnormal anterior chamber morphology, Anophthalmia ORPHA:93323
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Holoprosencephaly, Hydranencephaly ORPHA:2570
Weill-Marchesani Syndrome 2
Cataract, Ectopia lentis, Astigmatism, Iridodonesis, Lens luxation, Microspherophakia, Shallow an... OMIM:608328
Focal Dermal Hypoplasia
Oligodontia, Anteriorly placed anus, Iris coloboma, Myelomeningocele, Hydrocephalus, Hiatus herni... OMIM:305600
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:243310
Joubert Syndrome With Renal Defect
Encephalocele, Polymicrogyria, Iris coloboma, Hydrocephalus, Aganglionic megacolon, Cleft palate,... ORPHA:220497
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Warburg Micro Syndrome 4
Developmental cataract, Microcornea, Microphthalmia OMIM:615663
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Death in infancy, Microphthalmia, Cleft palate, Macrodontia, Long phi... ORPHA:1106
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chorioretinal dysplasia, Retinal detachment, Retinopathy, Microphthalmia, Abnormality of retinal ... ORPHA:2526
Fraser Syndrome
Encephalocele, Anal atresia, High palate, Myelomeningocele, Umbilical hernia, Death in infancy, M... ORPHA:2052
Joubert Syndrome With Ocular Defect
Encephalocele, Polymicrogyria, Iris coloboma, Hydrocephalus, Aganglionic megacolon, Cleft palate,... ORPHA:220493
Micro Syndrome
Cataract, Microcornea, Microphthalmia, Retinal coloboma ORPHA:2510
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:163649
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Ritscher-Schinzel Syndrome 1
Anal atresia, Hydrocephalus, Decreased response to growth hormone stimulation test, Cleft palate,... OMIM:220210
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, High palate, Polymicrogyria, Simplified gyral pattern, Optic nerve hypopla... ORPHA:300570
Joubert Syndrome 2
Encephalocele, Thickened superior cerebellar peduncle, High palate, Hydrocephalus, Elongated supe... OMIM:608091
Joubert Syndrome 21
Retinopathy, Megalopapilla, Anophthalmia, Optic atrophy OMIM:615636
Frontorhiny
Cataract, Iris coloboma, Microphthalmia ORPHA:391474
Seckel Syndrome 2
Microphthalmia OMIM:606744
Fraser Syndrome 1
Encephalocele, Abnormal cortical gyration, Bilateral microphthalmos, Difficulty in tongue movemen... OMIM:219000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae, Microphthalmia OMIM:618727
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Blepharocheilodontic Syndrome 1
Conical tooth, Anal atresia, Hypodontia, Neural tube defect, Cleft upper lip OMIM:119580
Refsum Disease
Cataract, Microphthalmia ORPHA:773
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos, Neonatal death OMIM:601186
8Q21.11 Microdeletion Syndrome
Cataract, Iris hypopigmentation, Microphthalmia, Sclerocornea, Corneal opacity ORPHA:284160
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Abnormal brainstem morphology, High palate, Hydrocephalus ORPHA:2720
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Microphthalmia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Peters... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Microphthalmia, Buphthalmos, Persistent pupillary membrane, Peters anomaly OMIM:613150
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Microphthalmia, Lens subluxation, Corneal opacity, Coloboma ORPHA:85167
Branchio-Oculo-Facial Syndrome
High palate, Tooth agenesis, Iris coloboma, Upper lip pit, Deep philtrum, Microdontia, Everted lo... ORPHA:1297
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve aplasia ORPHA:264200
Charge Syndrome
Anal atresia, Esophageal atresia, Iris coloboma, Duodenal atresia, Arrhinencephaly, Umbilical her... OMIM:214800
Orofaciodigital Syndrome I
Abnormal cortical gyration, High palate, Agenesis of permanent teeth, Myelomeningocele, Hydroceph... OMIM:311200
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Hypoplasia of the iris, Sclerocornea, Microphthalmia OMIM:613001
Oculoskeletodental Syndrome
Oligodontia, Abnormality of the dentition, Enamel hypoplasia, Microdontia, Abnormality of thalamu... ORPHA:557003
Xeroderma Pigmentosum, Complementation Group B
Cataract, Microphthalmia OMIM:610651
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Hydrocephalus ORPHA:363717
Orofaciodigital Syndrome Type 6
High palate, Tongue nodules, Cleft palate, Hamartoma of tongue, Hypothalamic hamartoma, Midline n... ORPHA:2754
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Hydrocephalus, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polymicrogyria, Hydrocephalus, Accessory oral frenulum, Cleft palate, Occipital meningocele, Hama... OMIM:616546
Neuroocular Syndrome
Lens coloboma, Hypoplasia of the fovea, Blue irides, Cataract, Brushfield spots, Iris coloboma, S... OMIM:619539
Marcus-Gunn Syndrome
Coloboma, Cleft lip, Cleft palate ORPHA:91412
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:234050
Ritscher-Schinzel Syndrome 3
Chorioretinal coloboma, Microphthalmia OMIM:619135
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Microphthalmia, Syndromic 6
High palate, Bifid uvula, Microphthalmia, Cleft palate, Microglossia, Anophthalmia, Anterior hypo... OMIM:607932
Acro-Renal-Ocular Syndrome
Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Chorioretinal coloboma, Optic dis... ORPHA:959
Papillorenal Syndrome
Cataract, Lens luxation, Microphthalmia, Optic disc coloboma, Retinal coloboma OMIM:120330
Acrocallosal Syndrome
Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Smooth philtrum, Thin vermili... OMIM:200990
Steinfeld Syndrome
Iris coloboma, Microphthalmia, Retinal coloboma OMIM:184705
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Optic disc hypoplasia, Long philtrum, Smooth philtrum, Hypoplasia of the brainstem, Molar tooth s... OMIM:619306
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Phace Association
Developmental cataract, Microphthalmia, Optic nerve hypoplasia OMIM:606519
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Esophageal varix, Molar tooth sign on MRI, Wide mouth, Co... OMIM:216360
Fanconi Anemia, Complementation Group I
Astigmatism, Microphthalmia, Optic nerve hypoplasia OMIM:609053
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Microphthalmia ORPHA:2505
Rhombencephalosynapsis
Esophageal atresia, Anal atresia, Hydrocephalus, Septo-optic dysplasia, Aganglionic megacolon, Na... ORPHA:59315
Holoprosencephaly 3
Cyclopia, Bifid uvula, Cleft lip, Solitary median maxillary central incisor, Holoprosencephaly, C... OMIM:142945
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Sclerocornea, Corneal opacity, Posterior embryotoxon, Anophthalmia ORPHA:2556
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Microphthalmia ORPHA:35173
Cach Syndrome
T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Dysgyria, Abnormal pons mo... ORPHA:135
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Microphthalmia OMIM:616449
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Cataract, Microcornea, Microphthalmia OMIM:257850
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormality of thalamus m... ORPHA:88619
Holoprosencephaly 14
Cyclopia, Cleft lip, Hydrocephalus, Aqueductal stenosis, Alobar holoprosencephaly, Holoprosenceph... OMIM:619895
Frontofacionasal Dysplasia
Cataract, Microcornea, Iris coloboma, Microphthalmia OMIM:229400
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Microphthalmia ORPHA:1352
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Branchiooculofacial Syndrome
Malrotation of colon, Abnormality of the dentition, Iris coloboma, Pyloric stenosis, Microphthalm... OMIM:113620
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Joubert Syndrome 37
Microphthalmia OMIM:619185
Pallister-Hall Syndrome
Anal atresia, Anteriorly placed anus, Holoprosencephaly, Decreased response to growth hormone sti... OMIM:146510
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Microphthalmia, Sclerocornea, Peters anomaly OMIM:309801
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Microphthalmia, Syndromic 1
Anal atresia, High palate, Tooth malposition, Iris coloboma, Pyloric stenosis, Optic disc colobom... OMIM:309800
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Marfan Syndrome
Cataract, Ectopia lentis, Astigmatism, Microspherophakia, Hypoplasia of the iris, Increased axial... OMIM:154700
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Microphthalmia OMIM:614230
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Iris coloboma OMIM:618874
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Anal atresia, Cleft lip, Incomplete cleft of the upper lip, Microphthalmia, Cleft ... OMIM:616300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Monosomy 18P
Microphthalmia ORPHA:1598
Panhypophysitis
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... ORPHA:95513
Trichothiodystrophy 1, Photosensitive
Cataract, Keratoconjunctivitis sicca, Microcornea, Microphthalmia OMIM:601675
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Ocular anterior segment dysgenesis ORPHA:369891
Progeria-Short Stature-Pigmented Nevi Syndrome
Selective tooth agenesis, Fragile teeth, Bifid uvula, Dental malocclusion, Hypodontia, Abnormalit... ORPHA:2959
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Miscarriage, T2 hypointense thalamus ORPHA:1947
Linear Nevus Sebaceus Syndrome
Iris coloboma, Microphthalmia ORPHA:2612
Martsolf Syndrome 1
Cataract, Developmental cataract, Microphthalmia OMIM:212720
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Optic atrophy, Decreased nerve conduction velocity, Optic... 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
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia OMIM:156610
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Iris coloboma, Microphthalmia ORPHA:268249
Duane-Radial Ray Syndrome
Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Retinal coloboma OMIM:607323
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system, Microphthalmia OMIM:620185
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Adams-Oliver Syndrome
Cataract, Microphthalmia ORPHA:974
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Kenny-Caffey Syndrome, Type 2
Developmental cataract, Microphthalmia OMIM:127000
Moebius Syndrome
Microphthalmia OMIM:157900
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Conjunctivitis, Corneal ulceration, Microphthalmia OMIM:153400
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Iris coloboma, Microphthalmia ORPHA:1236
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Bosma Arhinia Microphthalmia Syndrome
Cataract, Microphthalmia, Coloboma OMIM:603457
1Q21.1 Microdeletion Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:250989
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Increased circulating prolactin concentration, Gonadotrop... ORPHA:95512
Focal Dermal Hypoplasia
Ectopia lentis, Iris coloboma, Microphthalmia, Hypoplasia of the iris, Chorioretinal coloboma, Co... ORPHA:2092
Monosomy 13Q14
Cataract, Iris coloboma, Microphthalmia ORPHA:1587
Sponastrime Dysplasia
Cataract, Congenital aphakia, Microcoria ORPHA:93357
3Q29 Microdeletion Syndrome
Cataract, Microphthalmia ORPHA:65286
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Curry-Jones Syndrome
Iris coloboma, Microphthalmia OMIM:601707
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Microphthalmia OMIM:302960
Trisomy 18
Cataract, Cyclopia, Iris coloboma, Microphthalmia, Microcornea ORPHA:3380
Orofaciodigital Syndrome Xiv
Polymicrogyria, Anteriorly placed anus, Cleft lip, Simplified gyral pattern, Occipital encephaloc... OMIM:615948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Microphthalmia OMIM:253800
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Iris coloboma, Microphthalmia, Coloboma ORPHA:251014
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Paralytic ileus ORPHA:254930
Jacobsen Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea, Macular hypoplasia OMIM:147791
Cat Eye Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:115470
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia OMIM:251300
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Pseudotrisomy 13 Syndrome
Cyclopia, Microphthalmia OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Microphthalmia, Buphthalmos, Hypoplasia of the retina, Opacification of t... OMIM:253280
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:444013
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Focal T2 hyperintense thalamic lesion OMIM:619046
Hallermann-Streiff Syndrome
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Optic disc coloboma OMIM:234100
Semilobar Holoprosencephaly
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... ORPHA:220386
Alobar Holoprosencephaly
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... ORPHA:93926
Lobar Holoprosencephaly
High palate, Cyclopia, Bifid uvula, Hydrocephalus, Abnormal brainstem morphology, Solitary median... ORPHA:93924
Osteoporosis-Pseudoglioma Syndrome
Cataract, Absent anterior chamber of the eye, Microphthalmia, Phthisis bulbi, Iris atrophy OMIM:259770
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Iris coloboma, Microphthalmia ORPHA:3186
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Occipital encephalocele, Cleft palate, Molar tooth sign o... OMIM:610188
Cohen Syndrome
Iris coloboma, Microphthalmia ORPHA:193
Japanese Encephalitis
Abnormal pons morphology, Abnormal substantia nigra morphology, Focal T2 hyperintense thalamic le... ORPHA:79139
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Microphthalmia OMIM:109400
Basel-Vanagaite-Smirin-Yosef Syndrome
Developmental cataract, Microcornea, Microphthalmia ORPHA:464738
Incontinentia Pigmenti
Cataract, Hypoplasia of the fovea, Keratitis, Microphthalmia OMIM:308300
Leigh Syndrome With Cardiomyopathy
Abnormal brainstem morphology, Abnormality of thalamus morphology ORPHA:70474
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Dubowitz Syndrome
Megalocornea, Hypoplasia of the iris, Iris coloboma, Microphthalmia OMIM:223370
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothalamic hamartoma OMIM:619908
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
Corneal opacity, Microphthalmia ORPHA:364577
Momo Syndrome
Chorioretinal coloboma, Bilateral microphthalmos ORPHA:2563
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Microphthalmia OMIM:201180
Rothmund-Thomson Syndrome, Type 2
Cataract, Zonular cataract, Microcornea, Microphthalmia OMIM:268400
Mosaic Trisomy 1
Opacification of the corneal stroma, Microphthalmia ORPHA:1692
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Astigmatism, Microphthalmia, Hypoplasia of the iris, Corneal opacity, Developme... OMIM:175780
Craniofacial Microsomia
Transverse facial cleft, Hydrocephalus, Occipital encephalocele, Microphthalmia, Cleft palate, Br... OMIM:164210
Fryns Syndrome
Corneal opacity, Microphthalmia ORPHA:2059
Neuroferritinopathy
Iron accumulation in substantia nigra, Abnormal thalamic MRI signal intensity, T2 hypointense tha... ORPHA:157846
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Incontinentia Pigmenti
Cataract, Keratitis, Corneal opacity, Microphthalmia ORPHA:464
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity, Microphthalmia OMIM:601812
Mosaic Trisomy 9
Corneal opacity, Microphthalmia ORPHA:99776
Monosomy 9Q22.3
Cataract, Microphthalmia ORPHA:77301
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Cleft palate, Hamartoma of tongue, Supernumerary tooth, Bifid tongue, Lo... ORPHA:434179
Oculodentodigital Dysplasia
Cataract, Microcornea, Microphthalmia OMIM:164200
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:613884
Slc35A2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Atrophy/Degeneration affecting th... ORPHA:356961
Cousin Syndrome
Microcornea, Microphthalmia OMIM:260660
Hydranencephaly
Thalamic edema, Atrophic pituitary gland, Optic nerve hypoplasia, Dysgenesis of the thalamus, Cho... ORPHA:2177
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Iris coloboma, Microphthalmia, Optic nerve hypoplasia, Retinal coloboma, Coloboma ORPHA:508498
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cyclopia, Microphthalmia ORPHA:2166
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Peters anomaly, Microphthalmia, Coloboma OMIM:616975
Meningioma
Brain stem compression, Focal T2 hypointense thalamic lesion, Increased circulating prolactin con... ORPHA:2495
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Microphthalmia ORPHA:306542
Treacher-Collins Syndrome
Cataract, Iris coloboma, Microphthalmia ORPHA:861
Cockayne Syndrome Type 3
Cataract, Corneal ulceration, Lentiglobus, Keratoconjunctivitis sicca, Microphthalmia, Microcornea ORPHA:90324
Tetraamelia Syndrome 1
Cataract, Microphthalmia OMIM:273395
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Isolated Arrhinia
Microphthalmia ORPHA:1134
Aicardi Syndrome
Cataract, Optic disc coloboma, Microphthalmia OMIM:304050
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Protein-losing enteropathy, Death... OMIM:618183
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Microphthalmia ORPHA:1052
Hallermann-Streiff Syndrome
Developmental cataract, Microphthalmia ORPHA:2108
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Mend Syndrome
Cataract, Microphthalmia ORPHA:401973
Holoprosencephaly 2
Cyclopia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular... OMIM:157170
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:206448
Cockayne Syndrome B
Microphthalmia, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental catara... OMIM:133540
Aicardi Syndrome
Optic disc coloboma, Chorioretinal coloboma, Microphthalmia ORPHA:50
Leigh Syndrome
Focal T2 hyperintense brainstem lesion, Abnormal thalamic MRI signal intensity, Abnormal brainste... ORPHA:506