Gene: Ugt1a6b MGI:3580629
Log in to followHuman diseases caused by Ugt1a6b mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases predicted to be associated to Ugt1a6b by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Nanophthalmos 1 | Bilateral microphthalmos | OMIM:600165 | |
Microphthalmia, Isolated 7 | Microphthalmia | OMIM:613704 | |
Nanophthalmos 2 | Microphthalmia | OMIM:609549 | |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome | Microphthalmia, Anophthalmia | ORPHA:85275 | |
Microphthalmia, Isolated 1 | Microphthalmia, Anophthalmia | OMIM:251600 | |
Microphthalmia, Isolated, With Coloboma 10 | Microphthalmia, Anophthalmia | OMIM:616428 | |
Microphthalmia, Syndromic 16 | Microphthalmia, Anophthalmia | OMIM:611038 | |
Microphthalmia, Isolated 2 | Microphthalmia | OMIM:610093 | |
Premature Ovarian Failure 12 | Microphthalmia | OMIM:616947 | |
Microphthalmia, Isolated, With Coloboma 5 | Microphthalmia, Anophthalmia, Bilateral microphthalmos | OMIM:611638 | |
Microphthalmia, Isolated, With Cataract 1 | Microphthalmia | OMIM:156850 | |
Microphthalmia, Isolated, With Coloboma 4 | Microphthalmia | OMIM:251505 | |
Microphthalmia, Isolated, With Coloboma 6 | Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia | OMIM:613703 | |
Microphthalmia, Isolated, With Coloboma 7 | Microphthalmia | OMIM:614497 | |
Microphthalmia, Isolated, With Coloboma 3 | Microphthalmia | OMIM:610092 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 | Microphthalmia | OMIM:616335 | |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | Microphthalmia | OMIM:251700 | |
Gombo Syndrome | Microphthalmia | OMIM:233270 | |
Fryns Microphthalmia Syndrome | Microphthalmia, Anophthalmia | OMIM:600776 | |
Microphthalmia, Isolated 4 | Microphthalmia | OMIM:613094 | |
Nanophthalmos 4 | Microphthalmia | OMIM:615972 | |
Microphthalmia, Isolated 8 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia | OMIM:615113 | |
Nanophthalmos | Microphthalmia | ORPHA:35612 | |
Anencephaly 2 | Anophthalmia | OMIM:619452 | |
Cataract 11, Multiple Types | Microphthalmia | OMIM:610623 | |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome | Microphthalmia | ORPHA:1574 | |
Congenital Primary Aphakia | Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia | ORPHA:83461 | |
Microphthalmia, Syndromic 12 | Microphthalmia, Anophthalmia | OMIM:615524 | |
Microphthalmia, Isolated, With Corectopia | Microphthalmia | OMIM:156900 | |
Macrosomia-Microphthalmia-Cleft Palate Syndrome | Microphthalmia | ORPHA:2432 | |
Microphthalmia, Isolated 6 | Microphthalmia | OMIM:613517 | |
Facial Clefting, Oblique, 1 | Microphthalmia | OMIM:600251 | |
Congenital Varicella Syndrome | Microphthalmia | ORPHA:291 | |
Oculocerebrocutaneous Syndrome | Microphthalmia, Anophthalmia | OMIM:164180 | |
Cryptophthalmos, Unilateral Or Bilateral, Isolated | Microphthalmia | OMIM:123570 | |
Myopia 27, Autosomal Dominant | Increased axial length of the globe | OMIM:618827 | |
Foveal Hypoplasia 2 | Hypoplasia of the fovea, Microphthalmia | OMIM:609218 | |
Mmep Syndrome | Microphthalmia | ORPHA:3434 | |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development | Microphthalmia | OMIM:120433 | |
Meckel Syndrome, Type 8 | Microphthalmia, Anophthalmia | OMIM:613885 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 | Microphthalmia | OMIM:614830 | |
Cerebrooculofacioskeletal Syndrome 3 | Microphthalmia | OMIM:616570 | |
Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | ORPHA:2717 | |
Xeroderma Pigmentosum, Complementation Group G | Microphthalmia | OMIM:278780 | |
Fanconi Anemia, Complementation Group J | Microphthalmia | OMIM:609054 | |
Microcephaly-Microcornea Syndrome, Seemanova Type | Microphthalmia | ORPHA:2528 | |
Craniotelencephalic Dysplasia | Microphthalmia, Optic nerve hypoplasia | OMIM:218670 | |
Adams-Oliver Syndrome 4 | Microphthalmia | OMIM:615297 | |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma | Microphthalmia | OMIM:267760 | |
Microphthalmia, Syndromic 11 | Microphthalmia | OMIM:614402 | |
Cataract 9, Multiple Types | Microphthalmia | OMIM:604219 | |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome | Anophthalmia | ORPHA:411986 | |
Microphthalmia, Syndromic 5 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610125 | |
Biemond Syndrome Type 2 | Microphthalmia | ORPHA:141333 | |
Fanconi Anemia, Complementation Group G | Microphthalmia | OMIM:614082 | |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | Microphthalmia | OMIM:610023 | |
Anophthalmia Plus Syndrome | Anophthalmia | ORPHA:1104 | |
Dihydropyrimidine Dehydrogenase Deficiency | Microphthalmia | OMIM:274270 | |
Microphthalmia, Syndromic 13 | Microphthalmia | OMIM:300915 | |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 | Microphthalmia | OMIM:615771 | |
Craniotelencephalic Dysplasia | Microphthalmia, Septo-optic dysplasia | ORPHA:1528 | |
Solitary Median Maxillary Central Incisor | Microphthalmia, Anophthalmia | OMIM:147250 | |
Microphthalmia With Brain And Digit Anomalies | Microphthalmia, Anophthalmia | ORPHA:139471 | |
Manitoba Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | OMIM:248450 | |
Xk Aprosencephaly Syndrome | Microphthalmia | ORPHA:3469 | |
Microphthalmia, Isolated 5 | Microphthalmia | OMIM:611040 | |
Hydrolethalus | Microphthalmia, Anophthalmia | ORPHA:2189 | |
Trisomy 13 | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:3378 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Microphthalmia, Anophthalmia | ORPHA:77298 | |
Cerebrooculonasal Syndrome | Anophthalmia | ORPHA:66625 | |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome | Microphthalmia | ORPHA:324416 | |
Matthew-Wood Syndrome | Microphthalmia, Anophthalmia | ORPHA:2470 | |
2Q24 Microdeletion Syndrome | Microphthalmia | ORPHA:1617 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 | Microphthalmia | OMIM:616171 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Microphthalmia | OMIM:601794 | |
Deafness, X-Linked 7 | Unilateral microphthalmos | OMIM:301018 | |
Cofs Syndrome | Microphthalmia | ORPHA:1466 | |
Cat-Eye Syndrome | Microphthalmia | ORPHA:195 | |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome | Microphthalmia | ORPHA:231736 | |
Anterior Segment Dysgenesis 5 | Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia | OMIM:604229 | |
Microphthalmia, Syndromic 8 | Microphthalmia | OMIM:601349 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Microphthalmia | ORPHA:1135 | |
Microphthalmia With Limb Anomalies | Microphthalmia, Anophthalmia | OMIM:206920 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Microphthalmia | ORPHA:363741 | |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability | Microphthalmia | ORPHA:1473 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 | Microphthalmia | OMIM:251270 | |
Cornea Plana 2, Autosomal Recessive | Microphthalmia | OMIM:217300 | |
Braddock-Carey Syndrome 2 | Microphthalmia | OMIM:619981 | |
Cockayne Syndrome Type 2 | Anophthalmia | ORPHA:90322 | |
Walker-Warburg Syndrome | Microphthalmia, Anophthalmia | ORPHA:899 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Microphthalmia, Optic nerve hypoplasia | OMIM:615181 | |
Oculopalatocerebral Syndrome | Microphthalmia | OMIM:257910 | |
Trisomy 1Q | Anophthalmia | ORPHA:261344 | |
Pierpont Syndrome | Microphthalmia | ORPHA:487825 | |
Joubert Syndrome 22 | Microphthalmia | OMIM:615665 | |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts | Microphthalmia | OMIM:613730 | |
Frontonasal Dysplasia 3 | Microphthalmia | OMIM:613456 | |
Autosomal Dominant Keratitis | Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... | ORPHA:2334 | |
Oculogastrointestinal Neurodevelopmental Syndrome | Bilateral microphthalmos, Unilateral microphthalmos | OMIM:619318 | |
Lissencephaly 8 | Microphthalmia | OMIM:617255 | |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome | Microphthalmia, Anophthalmia | OMIM:615877 | |
Microphthalmia-Microtia-Fetal Akinesia Syndrome | Microphthalmia | ORPHA:2547 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 | Microphthalmia | OMIM:613155 | |
Hartsfield Syndrome | Microphthalmia | ORPHA:2117 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Microphthalmia | ORPHA:48431 | |
Warburg Micro Syndrome 1 | Microphthalmia | OMIM:600118 | |
Anterior Segment Dysgenesis 2 | Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia | OMIM:610256 | |
Temtamy Syndrome | Microphthalmia | ORPHA:1777 | |
Congenital Toxoplasmosis | Microphthalmia | ORPHA:858 | |
Anterior Segment Dysgenesis 7 | Buphthalmos, Microphthalmia | OMIM:269400 | |
Pierpont Syndrome | Microphthalmia | OMIM:602342 | |
17Q12 Microduplication Syndrome | Microphthalmia | ORPHA:261272 | |
Developmental Delay With Variable Neurologic And Brain Abnormalities | Microphthalmia | OMIM:619694 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Microphthalmia | OMIM:602501 | |
Triokinase And Fmn Cyclase Deficiency Syndrome | Microphthalmia | OMIM:618805 | |
Seckel Syndrome 2 | Microphthalmia | OMIM:606744 | |
Developmental And Epileptic Encephalopathy 1 | Microphthalmia | OMIM:308350 | |
Idiopathic Uveal Effusion Syndrome | Microphthalmia | ORPHA:209956 | |
Linear Skin Defects With Multiple Congenital Anomalies 2 | Microphthalmia | OMIM:300887 | |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | Buphthalmos, Microphthalmia | OMIM:212550 | |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome | Microphthalmia | ORPHA:93267 | |
Meckel Syndrome, Type 5 | Microphthalmia | OMIM:611561 | |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures | Microphthalmia, Optic nerve hypoplasia | OMIM:614833 | |
Microphthalmia-Brain Atrophy Syndrome | Bilateral microphthalmos | ORPHA:77299 | |
Baraitser-Winter Syndrome 2 | Microphthalmia | OMIM:614583 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Microphthalmia, Anophthalmia | ORPHA:2250 | |
Microphthalmia, Syndromic 3 | Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia | OMIM:206900 | |
Vacterl With Hydrocephalus | Microphthalmia, Anophthalmia | ORPHA:3412 | |
Nance-Horan Syndrome | Microphthalmia | ORPHA:627 | |
Rodrigues Blindness | Microphthalmia | OMIM:268320 | |
Congenital Rubella Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:290 | |
Osteopetrosis, Autosomal Recessive 8 | Unilateral microphthalmos | OMIM:615085 | |
Microphthalmia, Syndromic 9 | Anophthalmia, Bilateral microphthalmos | OMIM:601186 | |
Bartsocas-Papas Syndrome 2 | Microphthalmia | OMIM:619339 | |
Cockayne Syndrome Type 1 | Anophthalmia | ORPHA:90321 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Microphthalmia | OMIM:613153 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia | ORPHA:2788 | |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome | Aniridia, Anophthalmia | ORPHA:1101 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Microphthalmia | OMIM:619053 | |
Cerebrooculofacioskeletal Syndrome 2 | Microphthalmia | OMIM:610756 | |
Ring Chromosome 10 Syndrome | Microphthalmia | ORPHA:1438 | |
Frontonasal Dysplasia 1 | Microphthalmia | OMIM:136760 | |
Spondylo-Ocular Syndrome | Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:85194 | |
Bresek Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:85284 | |
Neurooculocardiogenitourinary Syndrome | Microphthalmia | OMIM:618652 | |
Coloboma, Ocular, Autosomal Dominant | Microphthalmia, Optic nerve aplasia | OMIM:120200 | |
Subaortic Stenosis-Short Stature Syndrome | Microphthalmia | ORPHA:3191 | |
Fibular Hemimelia | Anophthalmia | ORPHA:93323 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia | OMIM:167730 | |
Pelvis-Shoulder Dysplasia | Microphthalmia | OMIM:169550 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Microphthalmia | OMIM:300863 | |
Chromosome 17Q12 Duplication Syndrome | Microphthalmia | OMIM:614526 | |
Cerebrooculofacioskeletal Syndrome 1 | Microphthalmia | OMIM:214150 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Microphthalmia, Abnormally large globe | OMIM:615249 | |
Cerebrooculonasal Syndrome | Anophthalmia, Optic nerve hypoplasia | OMIM:605627 | |
Exudative Vitreoretinopathy 2, X-Linked | Microphthalmia | OMIM:305390 | |
Holoprosencephaly | Microphthalmia, Anophthalmia | ORPHA:2162 | |
Congenital Disorder Of Glycosylation, Type Iq | Microphthalmia | OMIM:612379 | |
Adams-Oliver Syndrome 2 | Microphthalmia | OMIM:614219 | |
Joubert Syndrome 37 | Microphthalmia | OMIM:619185 | |
Methylmalonate Semialdehyde Dehydrogenase Deficiency | Microphthalmia | OMIM:614105 | |
14Q22Q23 Microdeletion Syndrome | Optic nerve aplasia, Anophthalmia | ORPHA:264200 | |
Holoprosencephaly 9 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610829 | |
Meckel Syndrome, Type 2 | Microphthalmia | OMIM:603194 | |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome | Microphthalmia, Lens coloboma | OMIM:618914 | |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development | Microphthalmia | OMIM:152950 | |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies | Bilateral microphthalmos, Optic nerve hypoplasia | OMIM:607597 | |
Microgastria-Limb Reduction Defect Syndrome | Microphthalmia, Anophthalmia | ORPHA:2538 | |
Gracile Bone Dysplasia | Aniridia, Microphthalmia | OMIM:602361 | |
Microcephaly 20, Primary, Autosomal Recessive | Microphthalmia, Optic nerve hypoplasia | OMIM:617914 | |
Monosomy 18P | Microphthalmia | ORPHA:1598 | |
Temtamy Syndrome | Microphthalmia | OMIM:218340 | |
Stevenson-Carey Syndrome | Microphthalmia | OMIM:611961 | |
Fanconi Anemia, Complementation Group S | Microphthalmia | OMIM:617883 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Buphthalmos | OMIM:310600 | |
Curry-Jones Syndrome | Microphthalmia | ORPHA:1553 | |
Fanconi Anemia, Complementation Group R | Microphthalmia | OMIM:617244 | |
Meckel Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:564 | |
Sandestig-Stefanova Syndrome | Microphthalmia | OMIM:618804 | |
Microphthalmia, Isolated, With Coloboma 9 | Microphthalmia | OMIM:615145 | |
Myoclonic-Astatic Epilepsy | Microphthalmia | ORPHA:1942 | |
Otodental Syndrome | Microphthalmia, Lens coloboma | ORPHA:2791 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Microphthalmia, Anophthalmia | ORPHA:2526 | |
Vitreoretinochoroidopathy | Microphthalmia | OMIM:193220 | |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome | Microphthalmia | ORPHA:163649 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Microphthalmia | ORPHA:163966 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Microphthalmia, Optic nerve hypoplasia | ORPHA:370959 | |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome | Microphthalmia | ORPHA:228390 | |
Joubert Syndrome 21 | Anophthalmia | OMIM:615636 | |
Moebius Syndrome | Microphthalmia | OMIM:157900 | |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies | Microphthalmia | OMIM:618494 | |
Baraitser-Winter Syndrome 1 | Microphthalmia | OMIM:243310 | |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness | Microphthalmia | OMIM:617306 | |
Rere-Related Neurodevelopmental Syndrome | Microphthalmia | ORPHA:494344 | |
Congenital Fibrinogen Deficiency | Microphthalmia | ORPHA:335 | |
Meckel Syndrome, Type 4 | Microphthalmia | OMIM:611134 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Buphthalmos, Microphthalmia | OMIM:616538 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:2399 | |
Frontofacionasal Dysplasia | Microphthalmia | ORPHA:1791 | |
Fanconi Anemia, Complementation Group I | Microphthalmia, Optic nerve hypoplasia | OMIM:609053 | |
Kapur-Toriello Syndrome | Microphthalmia | ORPHA:2328 | |
Trichothiodystrophy 3, Photosensitive | Microphthalmia | OMIM:616395 | |
Warburg Micro Syndrome 4 | Microphthalmia | OMIM:615663 | |
Nance-Horan Syndrome | Microphthalmia | OMIM:302350 | |
Fetal Alcohol Syndrome | Microphthalmia | ORPHA:1915 | |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency | Microphthalmia | ORPHA:404440 | |
Familial Exudative Vitreoretinopathy | Microphthalmia | ORPHA:891 | |
Proboscis Lateralis | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | ORPHA:141099 | |
Refsum Disease | Microphthalmia | ORPHA:773 | |
Heart And Brain Malformation Syndrome | Microphthalmia | OMIM:616920 | |
Microphthalmia With Linear Skin Defects Syndrome | Microphthalmia, Anophthalmia | ORPHA:2556 | |
Ectodermal Dysplasia-Blindness Syndrome | Microphthalmia | ORPHA:1806 | |
Microphthalmia, Syndromic 2 | Microphthalmia, Phthisis bulbi, Anophthalmia | OMIM:300166 | |
Warburg Micro Syndrome 3 | Microphthalmia | OMIM:614222 | |
Ritscher-Schinzel Syndrome 3 | Microphthalmia | OMIM:619135 | |
Trichothiodystrophy 4, Nonphotosensitive | Microphthalmia | OMIM:234050 | |
Fraser Syndrome 1 | Anophthalmia, Bilateral microphthalmos | OMIM:219000 | |
3Q29 Microduplication Syndrome | Aniridia, Microphthalmia | ORPHA:251038 | |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome | Microphthalmia | ORPHA:1352 | |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type | Microphthalmia | ORPHA:2728 | |
3P25.3 Microdeletion Syndrome | Microphthalmia | ORPHA:435638 | |
Marden-Walker Syndrome | Microphthalmia | OMIM:248700 | |
Persistent Hyperplastic Primary Vitreous | Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia | ORPHA:91495 | |
Charge Syndrome | Microphthalmia, Anophthalmia | ORPHA:138 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Bilateral microphthalmos | ORPHA:369891 | |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | Buphthalmos, Microphthalmia, Phthisis bulbi | OMIM:221900 | |
Multiple Benign Circumferential Skin Creases On Limbs | Microphthalmia | ORPHA:2505 | |
Tetraamelia-Multiple Malformations Syndrome | Microphthalmia, Septo-optic dysplasia | ORPHA:3301 | |
Joubert Syndrome 14 | Microphthalmia | OMIM:614424 | |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome | Microphthalmia | OMIM:241410 | |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies | Microphthalmia | OMIM:620098 | |
Oculofaciocardiodental Syndrome | Microphthalmia | ORPHA:2712 | |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies | Microphthalmia | OMIM:618571 | |
Encephalocraniocutaneous Lipomatosis | Hypoplasia of the iris, Microphthalmia | OMIM:613001 | |
Microphthalmia With Limb Anomalies | Microphthalmia, True anophthalmia | ORPHA:1106 | |
Chromosome 1Q41-Q42 Deletion Syndrome | Microphthalmia | OMIM:612530 | |
Focal Dermal Hypoplasia | Aniridia, Microphthalmia, Anophthalmia | OMIM:305600 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | OMIM:616449 | |
Warburg Micro Syndrome 2 | Microphthalmia | OMIM:614225 | |
Cerebrooculofacioskeletal Syndrome 4 | Bilateral microphthalmos | OMIM:610758 | |
Fraser Syndrome | Microphthalmia, Anophthalmia | ORPHA:2052 | |
Micro Syndrome | Microphthalmia | ORPHA:2510 | |
X-Linked Dominant Chondrodysplasia Punctata | Microphthalmia | ORPHA:35173 | |
Isolated Arrhinia | Microphthalmia | ORPHA:1134 | |
Xeroderma Pigmentosum, Complementation Group D | Microphthalmia | OMIM:278730 | |
Xeroderma Pigmentosum, Complementation Group B | Microphthalmia | OMIM:610651 | |
Kapur-Toriello Syndrome | Microphthalmia | OMIM:244300 | |
Skin Creases, Congenital Symmetric Circumferential, 1 | Microphthalmia | OMIM:156610 | |
Adams-Oliver Syndrome | Microphthalmia | ORPHA:974 | |
Phace Association | Microphthalmia, Optic nerve hypoplasia | OMIM:606519 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | Buphthalmos, Microphthalmia | OMIM:613150 | |
Martsolf Syndrome 1 | Microphthalmia | OMIM:212720 | |
Blepharophimosis, Ptosis, And Epicanthus Inversus | Microphthalmia | OMIM:110100 | |
Frontorhiny | Microphthalmia | ORPHA:391474 | |
Linear Skin Defects With Multiple Congenital Anomalies 3 | Microphthalmia | OMIM:300952 | |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies | Microphthalmia | OMIM:618727 | |
Microcephaly-Micromelia Syndrome | Microphthalmia | OMIM:251230 | |
Oculodentodigital Dysplasia, Autosomal Recessive | Microphthalmia | OMIM:257850 | |
Chromosome 13Q33-Q34 Deletion Syndrome | Microphthalmia | OMIM:619148 | |
8Q21.11 Microdeletion Syndrome | Microphthalmia | ORPHA:284160 | |
Trichothiodystrophy 1, Photosensitive | Microphthalmia | OMIM:601675 | |
Microphthalmia, Lenz Type | Microphthalmia | ORPHA:568 | |
Charge Syndrome | Microphthalmia, Anophthalmia, Unilateral microphthalmos | OMIM:214800 | |
Frontonasal Dysplasia 2 | Microphthalmia | OMIM:613451 | |
3Q29 Microdeletion Syndrome | Microphthalmia | ORPHA:65286 | |
Chondrodysplasia Punctata 2, X-Linked Dominant | Microphthalmia | OMIM:302960 | |
Oculoauricular Syndrome | Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia | OMIM:612109 | |
Chromosome 8Q21.11 Deletion Syndrome | Microphthalmia | OMIM:614230 | |
Microphthalmia, Syndromic 6 | Microphthalmia, Anophthalmia | OMIM:607932 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | Microphthalmia, Optic nerve hypoplasia | OMIM:614643 | |
Stromme Syndrome | Microphthalmia, Optic nerve hypoplasia | OMIM:243605 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Microphthalmia | OMIM:253800 | |
Pierson Syndrome | Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... | OMIM:609049 | |
Pseudotrisomy 13 Syndrome | Microphthalmia | OMIM:264480 | |
Joubert Syndrome 2 | Microphthalmia | OMIM:608091 | |
Mosaic Trisomy 1 | Microphthalmia | ORPHA:1692 | |
Fanconi Anemia, Complementation Group F | Microphthalmia | OMIM:603467 | |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb | Unilateral microphthalmos | OMIM:618874 | |
Cohen Syndrome | Microphthalmia | ORPHA:193 | |
Meckel Syndrome 14 | Microphthalmia | OMIM:619879 | |
Duane-Radial Ray Syndrome | Microphthalmia, Optic disc hypoplasia | OMIM:607323 | |
Galloway-Mowat Syndrome 3 | Microphthalmia | OMIM:617729 | |
Oculo-Palato-Cerebral Syndrome | Microphthalmia | ORPHA:2714 | |
Mosaic Trisomy 9 | Microphthalmia | ORPHA:99776 | |
Branchiooculofacial Syndrome | Microphthalmia, Anophthalmia | OMIM:113620 | |
Papillorenal Syndrome | Microphthalmia | OMIM:120330 | |
Galloway-Mowat Syndrome 1 | Hypoplasia of the iris, Microphthalmia | OMIM:251300 | |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome | Microphthalmia | ORPHA:1236 | |
Fanconi Anemia, Complementation Group E | Microphthalmia | OMIM:600901 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | ORPHA:464738 | |
Fryns Syndrome | Microphthalmia | ORPHA:2059 | |
Lymphedema-Distichiasis Syndrome | Microphthalmia | OMIM:153400 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Buphthalmos, Microphthalmia, Optic nerve hypoplasia | OMIM:236670 | |
Ohdo Syndrome, X-Linked | Microphthalmia | OMIM:300895 | |
Curry-Jones Syndrome | Microphthalmia | OMIM:601707 | |
Fanconi Anemia, Complementation Group A | Microphthalmia | OMIM:227650 | |
Linear Nevus Sebaceus Syndrome | Microphthalmia | ORPHA:2612 | |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome | Microphthalmia | ORPHA:85167 | |
Steinfeld Syndrome | Microphthalmia | OMIM:184705 | |
1Q21.1 Microdeletion Syndrome | Microphthalmia | ORPHA:250989 | |
Momo Syndrome | Bilateral microphthalmos | ORPHA:2563 | |
Premature Aging Syndrome, Penttinen Type | Microphthalmia | OMIM:601812 | |
Focal Dermal Hypoplasia | Hypoplasia of the iris, Microphthalmia | ORPHA:2092 | |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome | Microphthalmia | ORPHA:364577 | |
Mycophenolate Mofetil Embryopathy | Microphthalmia | ORPHA:268249 | |
Pelvis-Shoulder Dysplasia | Bilateral microphthalmos | ORPHA:2839 | |
Atelis Syndrome 2 | Microphthalmia | OMIM:620185 | |
2Q31.1 Microdeletion Syndrome | Microphthalmia | ORPHA:251014 | |
Acrofrontofacionasal Dysostosis 1 | Microphthalmia | OMIM:201180 | |
Teebi-Shaltout Syndrome | Microphthalmia | OMIM:272950 | |
Kenny-Caffey Syndrome, Type 2 | Microphthalmia | OMIM:127000 | |
Cousin Syndrome | Microphthalmia | OMIM:260660 | |
Incontinentia Pigmenti | Hypoplasia of the fovea, Microphthalmia | OMIM:308300 | |
Cat Eye Syndrome | Microphthalmia | OMIM:115470 | |
Fanconi Anemia, Complementation Group C | Microphthalmia | OMIM:227645 | |
Jacobsen Syndrome | Microphthalmia, Macular hypoplasia | OMIM:147791 | |
Hallermann-Streiff Syndrome | Microphthalmia | OMIM:234100 | |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly | Microphthalmia | OMIM:616300 | |
Dubowitz Syndrome | Hypoplasia of the iris, Microphthalmia | OMIM:223370 | |
Trisomy 18 | Microphthalmia | ORPHA:3380 | |
Monosomy 9Q22.3 | Microphthalmia | ORPHA:77301 | |
Incontinentia Pigmenti | Microphthalmia | ORPHA:464 | |
Fraser Syndrome 2 | Microphthalmia | OMIM:617666 | |
Acro-Renal-Ocular Syndrome | Microphthalmia, Optic disc hypoplasia | ORPHA:959 | |
Pallister-Hall Syndrome | Microphthalmia | OMIM:146510 | |
Histiocytoid Cardiomyopathy | Microphthalmia, Congenital aphakia | ORPHA:137675 | |
Basal Cell Nevus Syndrome 1 | Microphthalmia | OMIM:109400 | |
Fanconi Anemia, Complementation Group L | Microphthalmia | OMIM:614083 | |
Phace Syndrome | Microphthalmia, Lens coloboma, Optic nerve hypoplasia | ORPHA:42775 | |
Oculodentodigital Dysplasia | Microphthalmia | OMIM:164200 | |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:508498 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Microphthalmia | ORPHA:2166 | |
Fanconi Anemia, Complementation Group D2 | Microphthalmia | OMIM:227646 | |
Rothmund-Thomson Syndrome, Type 2 | Microphthalmia | OMIM:268400 | |
Hallermann-Streiff Syndrome | Microphthalmia | ORPHA:2108 | |
Linear Skin Defects With Multiple Congenital Anomalies 1 | Microphthalmia | OMIM:309801 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia, Phthisis bulbi | OMIM:259770 | |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs | Microphthalmia | OMIM:601552 | |
Mosaic Variegated Aneuploidy Syndrome | Microphthalmia | ORPHA:1052 | |
Short-Rib Thoracic Dysplasia 20 With Polydactyly | Microphthalmia | OMIM:617925 | |
Aicardi Syndrome | Microphthalmia | ORPHA:50 | |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart | Microphthalmia | OMIM:616975 | |
Treacher-Collins Syndrome | Microphthalmia | ORPHA:861 | |
Craniofacial Microsomia 1 | Microphthalmia, Anophthalmia | OMIM:164210 | |
Bartsocas-Papas Syndrome 1 | Microphthalmia | OMIM:263650 | |
Cockayne Syndrome B | Hypoplasia of the iris, Microphthalmia | OMIM:133540 | |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome | Microphthalmia | ORPHA:3186 | |
Bosma Arhinia Microphthalmia Syndrome | Microphthalmia | OMIM:603457 | |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome | Microphthalmia | OMIM:620005 | |
Microphthalmia, Syndromic 1 | Microphthalmia, Anophthalmia | OMIM:309800 | |
Mend Syndrome | Microphthalmia | ORPHA:401973 | |
Holoprosencephaly 7 | Microphthalmia, Bilateral microphthalmos | OMIM:610828 | |
Frontofacionasal Dysplasia | Microphthalmia | OMIM:229400 | |
Monosomy 13Q14 | Microphthalmia | ORPHA:1587 | |
Aicardi Syndrome | Microphthalmia | OMIM:304050 | |
Trichothiodystrophy | Bilateral microphthalmos | ORPHA:33364 | |
Monosomy 9P | Microphthalmia | ORPHA:261112 | |
Cockayne Syndrome Type 3 | Microphthalmia | ORPHA:90324 | |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia | Microphthalmia | OMIM:609945 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Buphthalmos, Microphthalmia, Hypoplasia of the retina | OMIM:253280 | |
Oculocerebrorenal Syndrome Of Lowe | Buphthalmos, Microphthalmia | ORPHA:534 | |
Roberts Syndrome | Microphthalmia | ORPHA:3103 | |
Fanconi Anemia | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:84 | |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome | Microphthalmia | ORPHA:306542 | |
Fryns Syndrome | Microphthalmia | OMIM:229850 | |
Tetraamelia Syndrome 1 | Microphthalmia | OMIM:273395 | |
Myhre Syndrome | Microphthalmia | OMIM:139210 | |
Skin Creases, Congenital Symmetric Circumferential, 2 | Microphthalmia | OMIM:616734 | |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:468631 | |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly | Microphthalmia | OMIM:608670 | |
22Q11.2 Deletion Syndrome | Microphthalmia | ORPHA:567 | |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Microphthalmia | OMIM:620186 | |
Chromosome 13Q14 Deletion Syndrome | Microphthalmia | OMIM:613884 | |
Cockayne Syndrome | Microphthalmia | ORPHA:191 | |
Meckel Syndrome, Type 1 | Microphthalmia | OMIM:249000 | |
Degcags Syndrome | Microphthalmia | OMIM:619488 | |
Adams-Oliver Syndrome 1 | Microphthalmia | OMIM:100300 | |
Fontaine Progeroid Syndrome | Microphthalmia | OMIM:612289 | |
Yunis-Varon Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:3472 | |
Autosomal Dominant Kenny-Caffey Syndrome | Bilateral microphthalmos | ORPHA:93325 | |
Holoprosencephaly 1 | Microphthalmia | OMIM:236100 | |
Renpenning Syndrome 1 | Microphthalmia | OMIM:309500 | |
Neuroocular Syndrome | Hypoplasia of the fovea, Microphthalmia, Lens coloboma | OMIM:619539 | |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb | Microphthalmia | OMIM:612474 | |
Treacher Collins Syndrome 1 | Bilateral microphthalmos | OMIM:154500 | |
Neu-Laxova Syndrome 1 | Microphthalmia | OMIM:256520 | |
Lowe Oculocerebrorenal Syndrome | Microphthalmia | OMIM:309000 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:649 | |
Hydrolethalus Syndrome 1 | Microphthalmia | OMIM:236680 | |
Witteveen-Kolk Syndrome | Microphthalmia | OMIM:613406 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Hypoplasia of the iris, Microphthalmia | OMIM:175780 | |
Holoprosencephaly 2 | Microphthalmia | OMIM:157170 | |
Pallister-Hall Syndrome | Microphthalmia | ORPHA:672 | |
8Q24.3 Microdeletion Syndrome | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:508488 | |
Mowat-Wilson Syndrome | Microphthalmia | OMIM:235730 | |
Townes-Brocks Syndrome | Microphthalmia | ORPHA:857 | |
Roberts-Sc Phocomelia Syndrome | Microphthalmia | OMIM:268300 | |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 | Microphthalmia | ORPHA:261537 | |
Mowat-Wilson Syndrome | Microphthalmia | ORPHA:2152 | |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation | Microphthalmia | ORPHA:261552 |
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