Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
decreased lean body mass | Mrps36em1(IMPC)Bay | HET | Early adult | 8.34×10-07 | ||
preweaning lethality, complete penetrance | Mrps36em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
microphthalmia | Mrps36em1(IMPC)Bay | HOM | E18.5 | 0.00 | ||
abnormal bone structure | Mrps36em1(IMPC)Bay | HET | Early adult | 6.59×10-08 | ||
increased total body fat amount | Mrps36em1(IMPC)Bay | HET | Early adult | 1.83×10-05 | ||
increased bone mineral content | Mrps36em1(IMPC)Bay | HET | Early adult | 3.58×10-06 | ||
abnormal eye posterior chamber depth | Mrps36em1(IMPC)Bay | HET | Early adult | 3.99×10-07 |
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 Mrps36 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 2 | Microphthalmia | OMIM:610093 | |
Premature Ovarian Failure 12 | Microphthalmia | OMIM:616947 | |
Microphthalmia, Isolated 1 | Microphthalmia, Anophthalmia | OMIM:251600 | |
Microphthalmia, Isolated, With Coloboma 6 | Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia | OMIM:613703 | |
Microphthalmia, Isolated, With Cataract 1 | Microphthalmia | OMIM:156850 | |
Microphthalmia, Isolated, With Coloboma 4 | Microphthalmia | OMIM:251505 | |
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 | |
Microphthalmia, Syndromic 16 | Microphthalmia, Anophthalmia | OMIM:611038 | |
Microphthalmia, Isolated, With Coloboma 10 | Microphthalmia, Anophthalmia | OMIM:616428 | |
Microphthalmia, Isolated 4 | Microphthalmia | OMIM:613094 | |
Microphthalmia, Isolated, With Coloboma 5 | Microphthalmia, Anophthalmia, Bilateral microphthalmos | OMIM:611638 | |
Nanophthalmos 4 | Microphthalmia | OMIM:615972 | |
Nanophthalmos | Microphthalmia | ORPHA:35612 | |
Congenital Primary Aphakia | Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia | ORPHA:83461 | |
Cataract 11, Multiple Types | Microphthalmia | OMIM:610623 | |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome | Microphthalmia | ORPHA:1574 | |
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 | |
Fryns Microphthalmia Syndrome | Microphthalmia, Anophthalmia | OMIM:600776 | |
Congenital Varicella Syndrome | Microphthalmia | ORPHA:291 | |
Myopia 27, Autosomal Dominant | Increased axial length of the globe | OMIM:618827 | |
Foveal Hypoplasia 2 | Hypoplasia of the fovea, Microphthalmia | OMIM:609218 | |
Microphthalmia, Isolated 8 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia | OMIM:615113 | |
Cryptophthalmos, Unilateral Or Bilateral, Isolated | Microphthalmia | OMIM:123570 | |
Mmep Syndrome | Microphthalmia | ORPHA:3434 | |
Cerebrooculofacioskeletal Syndrome 3 | Microphthalmia | OMIM:616570 | |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development | Microphthalmia | OMIM:120433 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 | Microphthalmia | OMIM:614830 | |
Microcephaly-Microcornea Syndrome, Seemanova Type | Microphthalmia | ORPHA:2528 | |
Xeroderma Pigmentosum, Complementation Group G | Microphthalmia | OMIM:278780 | |
Adams-Oliver Syndrome 4 | Microphthalmia | OMIM:615297 | |
Craniotelencephalic Dysplasia | Microphthalmia, Optic nerve hypoplasia | OMIM:218670 | |
Fanconi Anemia, Complementation Group J | Microphthalmia | OMIM:609054 | |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma | Microphthalmia | OMIM:267760 | |
Cataract 9, Multiple Types | Microphthalmia | OMIM:604219 | |
Microphthalmia, Syndromic 11 | Microphthalmia | OMIM:614402 | |
Dihydropyrimidine Dehydrogenase Deficiency | Microphthalmia | OMIM:274270 | |
Microphthalmia, Syndromic 12 | Microphthalmia, Anophthalmia | OMIM:615524 | |
Biemond Syndrome Type 2 | Microphthalmia | ORPHA:141333 | |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | Microphthalmia | OMIM:610023 | |
Fanconi Anemia, Complementation Group G | Microphthalmia | OMIM:614082 | |
Craniotelencephalic Dysplasia | Microphthalmia, Septo-optic dysplasia | ORPHA:1528 | |
Microphthalmia, Syndromic 13 | Microphthalmia | OMIM:300915 | |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 | Microphthalmia | OMIM:615771 | |
Microphthalmia, Isolated 5 | Microphthalmia | OMIM:611040 | |
2Q24 Microdeletion Syndrome | Microphthalmia | ORPHA:1617 | |
Xk Aprosencephaly Syndrome | Microphthalmia | ORPHA:3469 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 | Microphthalmia | OMIM:616171 | |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome | Microphthalmia | ORPHA:324416 | |
Cofs Syndrome | Microphthalmia | ORPHA:1466 | |
Oculocerebrocutaneous Syndrome | Microphthalmia, Anophthalmia | OMIM:164180 | |
Cat-Eye Syndrome | Microphthalmia | ORPHA:195 | |
Anterior Segment Dysgenesis 5 | Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia | OMIM:604229 | |
Pierpont Syndrome | Microphthalmia | ORPHA:487825 | |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability | Microphthalmia | ORPHA:1473 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Microphthalmia | ORPHA:1135 | |
Microphthalmia, Syndromic 8 | Microphthalmia | OMIM:601349 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Microphthalmia | OMIM:601794 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 | Microphthalmia | OMIM:251270 | |
Deafness, X-Linked 7 | Unilateral microphthalmos | OMIM:301018 | |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome | Microphthalmia | ORPHA:231736 | |
Pierpont Syndrome | Microphthalmia | OMIM:602342 | |
Warburg Micro Syndrome 1 | Microphthalmia | OMIM:600118 | |
Meckel Syndrome, Type 8 | Microphthalmia, Anophthalmia | OMIM:613885 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Microphthalmia | ORPHA:363741 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Microphthalmia, Optic nerve hypoplasia | OMIM:615181 | |
Autosomal Dominant Keratitis | Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... | ORPHA:2334 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Microphthalmia | ORPHA:48431 | |
Braddock-Carey Syndrome 2 | Microphthalmia | OMIM:619981 | |
Oculogastrointestinal Neurodevelopmental Syndrome | Bilateral microphthalmos, Unilateral microphthalmos | OMIM:619318 | |
Cornea Plana 2, Autosomal Recessive | Microphthalmia | OMIM:217300 | |
Lissencephaly 8 | Microphthalmia | OMIM:617255 | |
Congenital Toxoplasmosis | Microphthalmia | ORPHA:858 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 | Microphthalmia | OMIM:613155 | |
Joubert Syndrome 22 | Microphthalmia | OMIM:615665 | |
Temtamy Syndrome | Microphthalmia | ORPHA:1777 | |
Anterior Segment Dysgenesis 2 | Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia | OMIM:610256 | |
Developmental Delay With Variable Neurologic And Brain Abnormalities | Microphthalmia | OMIM:619694 | |
Hartsfield Syndrome | Microphthalmia | ORPHA:2117 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Microphthalmia | OMIM:602501 | |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts | Microphthalmia | OMIM:613730 | |
Microphthalmia-Microtia-Fetal Akinesia Syndrome | Microphthalmia | ORPHA:2547 | |
Frontonasal Dysplasia 3 | Microphthalmia | OMIM:613456 | |
Developmental And Epileptic Encephalopathy 1 | Microphthalmia | OMIM:308350 | |
Linear Skin Defects With Multiple Congenital Anomalies 2 | Microphthalmia | OMIM:300887 | |
Anterior Segment Dysgenesis 7 | Buphthalmos, Microphthalmia | OMIM:269400 | |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome | Microphthalmia | ORPHA:93267 | |
Triokinase And Fmn Cyclase Deficiency Syndrome | Microphthalmia | OMIM:618805 | |
Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | ORPHA:2717 | |
Oculopalatocerebral Syndrome | Microphthalmia | OMIM:257910 | |
17Q12 Microduplication Syndrome | Microphthalmia | ORPHA:261272 | |
Baraitser-Winter Syndrome 2 | Microphthalmia | OMIM:614583 | |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | Buphthalmos, Microphthalmia | OMIM:212550 | |
Seckel Syndrome 2 | Microphthalmia | OMIM:606744 | |
Microphthalmia-Brain Atrophy Syndrome | Bilateral microphthalmos | ORPHA:77299 | |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures | Microphthalmia, Optic nerve hypoplasia | OMIM:614833 | |
Congenital Rubella Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:290 | |
Idiopathic Uveal Effusion Syndrome | Microphthalmia | ORPHA:209956 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Microphthalmia | OMIM:613153 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia | ORPHA:2788 | |
Meckel Syndrome, Type 5 | Microphthalmia | OMIM:611561 | |
Frontonasal Dysplasia 1 | Microphthalmia | OMIM:136760 | |
Nance-Horan Syndrome | Microphthalmia | ORPHA:627 | |
Spondylo-Ocular Syndrome | Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:85194 | |
Microphthalmia, Syndromic 5 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610125 | |
Bresek Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:85284 | |
Ring Chromosome 10 Syndrome | Microphthalmia | ORPHA:1438 | |
Cerebrooculofacioskeletal Syndrome 1 | Microphthalmia | OMIM:214150 | |
Bartsocas-Papas Syndrome 2 | Microphthalmia | OMIM:619339 | |
Rodrigues Blindness | Microphthalmia | OMIM:268320 | |
Cerebrooculofacioskeletal Syndrome 2 | Microphthalmia | OMIM:610756 | |
Neurooculocardiogenitourinary Syndrome | Microphthalmia | OMIM:618652 | |
Subaortic Stenosis-Short Stature Syndrome | Microphthalmia | ORPHA:3191 | |
Trisomy 13 | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:3378 | |
Osteopetrosis, Autosomal Recessive 8 | Unilateral microphthalmos | OMIM:615085 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia | OMIM:167730 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Microphthalmia, Abnormally large globe | OMIM:615249 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Microphthalmia | OMIM:619053 | |
Adams-Oliver Syndrome 2 | Microphthalmia | OMIM:614219 | |
Methylmalonate Semialdehyde Dehydrogenase Deficiency | Microphthalmia | OMIM:614105 | |
Solitary Median Maxillary Central Incisor | Microphthalmia, Anophthalmia | OMIM:147250 | |
Joubert Syndrome 37 | Microphthalmia | OMIM:619185 | |
Congenital Disorder Of Glycosylation, Type Iq | Microphthalmia | OMIM:612379 | |
Hydrolethalus | Microphthalmia, Anophthalmia | ORPHA:2189 | |
Microphthalmia With Brain And Digit Anomalies | Microphthalmia, Anophthalmia | ORPHA:139471 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Microphthalmia | OMIM:300863 | |
Coloboma, Ocular, Autosomal Dominant | Microphthalmia, Optic nerve aplasia | OMIM:120200 | |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development | Microphthalmia | OMIM:152950 | |
Pelvis-Shoulder Dysplasia | Microphthalmia | OMIM:169550 | |
Monosomy 18P | Microphthalmia | ORPHA:1598 | |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome | Microphthalmia, Lens coloboma | OMIM:618914 | |
Temtamy Syndrome | Microphthalmia | OMIM:218340 | |
Manitoba Oculotrichoanal Syndrome | Microphthalmia, Anophthalmia | OMIM:248450 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Microphthalmia, Anophthalmia | ORPHA:77298 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Microphthalmia, Optic nerve hypoplasia | ORPHA:370959 | |
Chromosome 17Q12 Duplication Syndrome | Microphthalmia | OMIM:614526 | |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome | Microphthalmia | ORPHA:163649 | |
Myoclonic-Astatic Epilepsy | Microphthalmia | ORPHA:1942 | |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies | Microphthalmia | OMIM:618494 | |
Sandestig-Stefanova Syndrome | Microphthalmia | OMIM:618804 | |
Exudative Vitreoretinopathy 2, X-Linked | Microphthalmia | OMIM:305390 | |
Fanconi Anemia, Complementation Group S | Microphthalmia | OMIM:617883 | |
Moebius Syndrome | Microphthalmia | OMIM:157900 | |
Stevenson-Carey Syndrome | Microphthalmia | OMIM:611961 | |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies | Bilateral microphthalmos, Optic nerve hypoplasia | OMIM:607597 | |
Otodental Syndrome | Microphthalmia, Lens coloboma | ORPHA:2791 | |
Microcephaly 20, Primary, Autosomal Recessive | Microphthalmia, Optic nerve hypoplasia | OMIM:617914 | |
Baraitser-Winter Syndrome 1 | Microphthalmia | OMIM:243310 | |
Gracile Bone Dysplasia | Aniridia, Microphthalmia | OMIM:602361 | |
Rere-Related Neurodevelopmental Syndrome | Microphthalmia | ORPHA:494344 | |
Matthew-Wood Syndrome | Microphthalmia, Anophthalmia | ORPHA:2470 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Buphthalmos | OMIM:310600 | |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome | Microphthalmia | ORPHA:228390 | |
Meckel Syndrome, Type 2 | Microphthalmia | OMIM:603194 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Microphthalmia | ORPHA:163966 | |
Curry-Jones Syndrome | Microphthalmia | ORPHA:1553 | |
Vitreoretinochoroidopathy | Microphthalmia | OMIM:193220 | |
Microphthalmia, Isolated, With Coloboma 9 | Microphthalmia | OMIM:615145 | |
Fanconi Anemia, Complementation Group I | Microphthalmia, Optic nerve hypoplasia | OMIM:609053 | |
Fanconi Anemia, Complementation Group R | Microphthalmia | OMIM:617244 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:2399 | |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency | Microphthalmia | ORPHA:404440 | |
Microphthalmia With Limb Anomalies | Microphthalmia, Anophthalmia | OMIM:206920 | |
Congenital Fibrinogen Deficiency | Microphthalmia | ORPHA:335 | |
Frontofacionasal Dysplasia | Microphthalmia | ORPHA:1791 | |
Trichothiodystrophy 3, Photosensitive | Microphthalmia | OMIM:616395 | |
Warburg Micro Syndrome 4 | Microphthalmia | OMIM:615663 | |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness | Microphthalmia | OMIM:617306 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Buphthalmos, Microphthalmia | OMIM:616538 | |
Heart And Brain Malformation Syndrome | Microphthalmia | OMIM:616920 | |
Meckel Syndrome, Type 4 | Microphthalmia | OMIM:611134 | |
Refsum Disease | Microphthalmia | ORPHA:773 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Bilateral microphthalmos | ORPHA:369891 | |
Fetal Alcohol Syndrome | Microphthalmia | ORPHA:1915 | |
Kapur-Toriello Syndrome | Microphthalmia | ORPHA:2328 | |
Warburg Micro Syndrome 3 | Microphthalmia | OMIM:614222 | |
3P25.3 Microdeletion Syndrome | Microphthalmia | ORPHA:435638 | |
Marden-Walker Syndrome | Microphthalmia | OMIM:248700 | |
Walker-Warburg Syndrome | Microphthalmia, Anophthalmia | ORPHA:899 | |
Familial Exudative Vitreoretinopathy | Microphthalmia | ORPHA:891 | |
Ectodermal Dysplasia-Blindness Syndrome | Microphthalmia | ORPHA:1806 | |
Joubert Syndrome 14 | Microphthalmia | OMIM:614424 | |
Trichothiodystrophy 4, Nonphotosensitive | Microphthalmia | OMIM:234050 | |
Persistent Hyperplastic Primary Vitreous | Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia | ORPHA:91495 | |
Nance-Horan Syndrome | Microphthalmia | OMIM:302350 | |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies | Microphthalmia | OMIM:620098 | |
3Q29 Microduplication Syndrome | Aniridia, Microphthalmia | ORPHA:251038 | |
Chromosome 1Q41-Q42 Deletion Syndrome | Microphthalmia | OMIM:612530 | |
Tetraamelia-Multiple Malformations Syndrome | Microphthalmia, Septo-optic dysplasia | ORPHA:3301 | |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | Buphthalmos, Microphthalmia, Phthisis bulbi | OMIM:221900 | |
Oculofaciocardiodental Syndrome | Microphthalmia | ORPHA:2712 | |
Ritscher-Schinzel Syndrome 3 | Microphthalmia | OMIM:619135 | |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome | Microphthalmia | OMIM:241410 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | OMIM:616449 | |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies | Microphthalmia | OMIM:618571 | |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type | Microphthalmia | ORPHA:2728 | |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome | Microphthalmia | ORPHA:1352 | |
Multiple Benign Circumferential Skin Creases On Limbs | Microphthalmia | ORPHA:2505 | |
Encephalocraniocutaneous Lipomatosis | Hypoplasia of the iris, Microphthalmia | OMIM:613001 | |
X-Linked Dominant Chondrodysplasia Punctata | Microphthalmia | ORPHA:35173 | |
Cerebrooculofacioskeletal Syndrome 4 | Bilateral microphthalmos | OMIM:610758 | |
Micro Syndrome | Microphthalmia | ORPHA:2510 | |
Warburg Micro Syndrome 2 | Microphthalmia | OMIM:614225 | |
Martsolf Syndrome 1 | Microphthalmia | OMIM:212720 | |
Adams-Oliver Syndrome | Microphthalmia | ORPHA:974 | |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome | Microphthalmia, Anophthalmia | OMIM:615877 | |
Chromosome 13Q33-Q34 Deletion Syndrome | Microphthalmia | OMIM:619148 | |
Kapur-Toriello Syndrome | Microphthalmia | OMIM:244300 | |
Skin Creases, Congenital Symmetric Circumferential, 1 | Microphthalmia | OMIM:156610 | |
Oculodentodigital Dysplasia, Autosomal Recessive | Microphthalmia | OMIM:257850 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | Buphthalmos, Microphthalmia | OMIM:613150 | |
Trichothiodystrophy 1, Photosensitive | Microphthalmia | OMIM:601675 | |
Xeroderma Pigmentosum, Complementation Group D | Microphthalmia | OMIM:278730 | |
Microcephaly-Micromelia Syndrome | Microphthalmia | OMIM:251230 | |
Xeroderma Pigmentosum, Complementation Group B | Microphthalmia | OMIM:610651 | |
Frontonasal Dysplasia 2 | Microphthalmia | OMIM:613451 | |
Frontorhiny | Microphthalmia | ORPHA:391474 | |
Chondrodysplasia Punctata 2, X-Linked Dominant | Microphthalmia | OMIM:302960 | |
Microphthalmia, Lenz Type | Microphthalmia | ORPHA:568 | |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies | Microphthalmia | OMIM:618727 | |
8Q21.11 Microdeletion Syndrome | Microphthalmia | ORPHA:284160 | |
Phace Association | Microphthalmia, Optic nerve hypoplasia | OMIM:606519 | |
Microphthalmia, Syndromic 3 | Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia | OMIM:206900 | |
Oculoauricular Syndrome | Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia | OMIM:612109 | |
3Q29 Microdeletion Syndrome | Microphthalmia | ORPHA:65286 | |
Chromosome 8Q21.11 Deletion Syndrome | Microphthalmia | OMIM:614230 | |
Linear Skin Defects With Multiple Congenital Anomalies 3 | Microphthalmia | OMIM:300952 | |
Blepharophimosis, Ptosis, And Epicanthus Inversus | Microphthalmia | OMIM:110100 | |
Mosaic Trisomy 1 | Microphthalmia | ORPHA:1692 | |
Isolated Arrhinia | Microphthalmia | ORPHA:1134 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Microphthalmia | OMIM:253800 | |
Cohen Syndrome | Microphthalmia | ORPHA:193 | |
Mosaic Trisomy 9 | Microphthalmia | ORPHA:99776 | |
Duane-Radial Ray Syndrome | Microphthalmia, Optic disc hypoplasia | OMIM:607323 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | Microphthalmia, Optic nerve hypoplasia | OMIM:614643 | |
Pseudotrisomy 13 Syndrome | Microphthalmia | OMIM:264480 | |
Joubert Syndrome 2 | Microphthalmia | OMIM:608091 | |
Stromme Syndrome | Microphthalmia, Optic nerve hypoplasia | OMIM:243605 | |
Pierson Syndrome | Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... | OMIM:609049 | |
Galloway-Mowat Syndrome 1 | Hypoplasia of the iris, Microphthalmia | OMIM:251300 | |
Vacterl With Hydrocephalus | Microphthalmia, Anophthalmia | ORPHA:3412 | |
Galloway-Mowat Syndrome 3 | Microphthalmia | OMIM:617729 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | ORPHA:464738 | |
Papillorenal Syndrome | Microphthalmia | OMIM:120330 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Microphthalmia, Anophthalmia | ORPHA:2250 | |
Fryns Syndrome | Microphthalmia | ORPHA:2059 | |
Meckel Syndrome 14 | Microphthalmia | OMIM:619879 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Buphthalmos, Microphthalmia, Optic nerve hypoplasia | OMIM:236670 | |
Fanconi Anemia, Complementation Group F | Microphthalmia | OMIM:603467 | |
Ohdo Syndrome, X-Linked | Microphthalmia | OMIM:300895 | |
Focal Dermal Hypoplasia | Hypoplasia of the iris, Microphthalmia | ORPHA:2092 | |
Premature Aging Syndrome, Penttinen Type | Microphthalmia | OMIM:601812 | |
Fanconi Anemia, Complementation Group E | Microphthalmia | OMIM:600901 | |
2Q31.1 Microdeletion Syndrome | Microphthalmia | ORPHA:251014 | |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome | Microphthalmia | ORPHA:1236 | |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb | Unilateral microphthalmos | OMIM:618874 | |
1Q21.1 Microdeletion Syndrome | Microphthalmia | ORPHA:250989 | |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome | Microphthalmia | ORPHA:85167 | |
Momo Syndrome | Bilateral microphthalmos | ORPHA:2563 | |
Pelvis-Shoulder Dysplasia | Bilateral microphthalmos | ORPHA:2839 | |
Fanconi Anemia, Complementation Group A | Microphthalmia | OMIM:227650 | |
Lymphedema-Distichiasis Syndrome | Microphthalmia | OMIM:153400 | |
Curry-Jones Syndrome | Microphthalmia | OMIM:601707 | |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome | Microphthalmia | ORPHA:364577 | |
Hallermann-Streiff Syndrome | Microphthalmia | OMIM:234100 | |
Atelis Syndrome 2 | Microphthalmia | OMIM:620185 | |
Cousin Syndrome | Microphthalmia | OMIM:260660 | |
Oculo-Palato-Cerebral Syndrome | Microphthalmia | ORPHA:2714 | |
Teebi-Shaltout Syndrome | Microphthalmia | OMIM:272950 | |
Incontinentia Pigmenti | Hypoplasia of the fovea, Microphthalmia | OMIM:308300 | |
Trisomy 18 | Microphthalmia | ORPHA:3380 | |
Dubowitz Syndrome | Hypoplasia of the iris, Microphthalmia | OMIM:223370 | |
Holoprosencephaly | Microphthalmia, Anophthalmia | ORPHA:2162 | |
Jacobsen Syndrome | Microphthalmia, Macular hypoplasia | OMIM:147791 | |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly | Microphthalmia | OMIM:616300 | |
Mycophenolate Mofetil Embryopathy | Microphthalmia | ORPHA:268249 | |
Incontinentia Pigmenti | Microphthalmia | ORPHA:464 | |
Cat Eye Syndrome | Microphthalmia | OMIM:115470 | |
Fanconi Anemia, Complementation Group C | Microphthalmia | OMIM:227645 | |
Linear Nevus Sebaceus Syndrome | Microphthalmia | ORPHA:2612 | |
Pallister-Hall Syndrome | Microphthalmia | OMIM:146510 | |
Acrofrontofacionasal Dysostosis 1 | Microphthalmia | OMIM:201180 | |
Steinfeld Syndrome | Microphthalmia | OMIM:184705 | |
Acro-Renal-Ocular Syndrome | Microphthalmia, Optic disc hypoplasia | ORPHA:959 | |
Monosomy 9Q22.3 | Microphthalmia | ORPHA:77301 | |
Histiocytoid Cardiomyopathy | Microphthalmia, Congenital aphakia | ORPHA:137675 | |
Basal Cell Nevus Syndrome 1 | Microphthalmia | OMIM:109400 | |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | Microphthalmia, Optic nerve hypoplasia | ORPHA:508498 | |
Microphthalmia, Syndromic 9 | Anophthalmia, Bilateral microphthalmos | OMIM:601186 | |
Holoprosencephaly 9 | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | OMIM:610829 | |
Kenny-Caffey Syndrome, Type 2 | Microphthalmia | OMIM:127000 | |
Microgastria-Limb Reduction Defect Syndrome | Microphthalmia, Anophthalmia | ORPHA:2538 | |
Fanconi Anemia, Complementation Group L | Microphthalmia | OMIM:614083 | |
Oculodentodigital Dysplasia | Microphthalmia | OMIM:164200 | |
Fraser Syndrome 2 | Microphthalmia | OMIM:617666 | |
Fanconi Anemia, Complementation Group D2 | Microphthalmia | OMIM:227646 | |
Rothmund-Thomson Syndrome, Type 2 | Microphthalmia | OMIM:268400 | |
Meckel Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia | ORPHA:564 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Microphthalmia, Anophthalmia | ORPHA:2526 | |
Mosaic Variegated Aneuploidy Syndrome | Microphthalmia | ORPHA:1052 | |
Hallermann-Streiff Syndrome | Microphthalmia | ORPHA:2108 | |
Phace Syndrome | Microphthalmia, Lens coloboma, Optic nerve hypoplasia | ORPHA:42775 | |
Bartsocas-Papas Syndrome 1 | Microphthalmia | OMIM:263650 | |
Cockayne Syndrome B | Hypoplasia of the iris, Microphthalmia | OMIM:133540 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Microphthalmia | ORPHA:2166 | |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart | Microphthalmia | OMIM:616975 | |
Short-Rib Thoracic Dysplasia 20 With Polydactyly | Microphthalmia | OMIM:617925 | |
Treacher-Collins Syndrome | Microphthalmia | ORPHA:861 | |
Microphthalmia With Limb Anomalies | Microphthalmia, True anophthalmia | ORPHA:1106 | |
Aicardi Syndrome | Microphthalmia | ORPHA:50 | |
Trichothiodystrophy | Bilateral microphthalmos | ORPHA:33364 | |
Linear Skin Defects With Multiple Congenital Anomalies 1 | Microphthalmia | OMIM:309801 | |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome | Microphthalmia | OMIM:620005 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia, Phthisis bulbi | OMIM:259770 | |
Oculocerebrorenal Syndrome Of Lowe | Buphthalmos, Microphthalmia | ORPHA:534 | |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs | Microphthalmia | OMIM:601552 | |
Holoprosencephaly 7 | Microphthalmia, Bilateral microphthalmos | OMIM:610828 | |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia | Microphthalmia | OMIM:609945 | |
Cockayne Syndrome Type 3 | Microphthalmia | ORPHA:90324 | |
Aicardi Syndrome | Microphthalmia | OMIM:304050 | |
Fanconi Anemia | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:84 | |
Monosomy 9P | Microphthalmia | ORPHA:261112 | |
Mend Syndrome | Microphthalmia | ORPHA:401973 | |
22Q11.2 Deletion Syndrome | Microphthalmia | ORPHA:567 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Buphthalmos, Microphthalmia, Hypoplasia of the retina | OMIM:253280 | |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome | Microphthalmia | ORPHA:3186 | |
Bosma Arhinia Microphthalmia Syndrome | Microphthalmia | OMIM:603457 | |
Fryns Syndrome | Microphthalmia | OMIM:229850 | |
Myhre Syndrome | Microphthalmia | OMIM:139210 | |
Microphthalmia With Linear Skin Defects Syndrome | Microphthalmia, Anophthalmia | ORPHA:2556 | |
Roberts Syndrome | Microphthalmia | ORPHA:3103 | |
Cockayne Syndrome | Microphthalmia | ORPHA:191 | |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:468631 | |
Proboscis Lateralis | Microphthalmia, Anophthalmia, Optic nerve hypoplasia | ORPHA:141099 | |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Microphthalmia | OMIM:620186 | |
Monosomy 13Q14 | Microphthalmia | ORPHA:1587 | |
Meckel Syndrome, Type 1 | Microphthalmia | OMIM:249000 | |
Microphthalmia, Syndromic 2 | Microphthalmia, Phthisis bulbi, Anophthalmia | OMIM:300166 | |
Frontofacionasal Dysplasia | Microphthalmia | OMIM:229400 | |
Degcags Syndrome | Microphthalmia | OMIM:619488 | |
Skin Creases, Congenital Symmetric Circumferential, 2 | Microphthalmia | OMIM:616734 | |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly | Microphthalmia | OMIM:608670 | |
Charge Syndrome | Microphthalmia, Anophthalmia | ORPHA:138 | |
Fontaine Progeroid Syndrome | Microphthalmia | OMIM:612289 | |
Yunis-Varon Syndrome | Microphthalmia, Bilateral microphthalmos | ORPHA:3472 | |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome | Microphthalmia | ORPHA:306542 | |
Tetraamelia Syndrome 1 | Microphthalmia | OMIM:273395 | |
Focal Dermal Hypoplasia | Aniridia, Microphthalmia, Anophthalmia | OMIM:305600 | |
Chromosome 13Q14 Deletion Syndrome | Microphthalmia | OMIM:613884 | |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb | Microphthalmia | OMIM:612474 | |
Renpenning Syndrome 1 | Microphthalmia | OMIM:309500 | |
Adams-Oliver Syndrome 1 | Microphthalmia | OMIM:100300 | |
Neuroocular Syndrome | Hypoplasia of the fovea, Microphthalmia, Lens coloboma | OMIM:619539 | |
Fraser Syndrome | Microphthalmia, Anophthalmia | ORPHA:2052 | |
Autosomal Dominant Kenny-Caffey Syndrome | Bilateral microphthalmos | ORPHA:93325 | |
Neu-Laxova Syndrome 1 | Microphthalmia | OMIM:256520 | |
Charge Syndrome | Microphthalmia, Anophthalmia, Unilateral microphthalmos | OMIM:214800 | |
Lowe Oculocerebrorenal Syndrome | Microphthalmia | OMIM:309000 | |
Holoprosencephaly 1 | Microphthalmia | OMIM:236100 | |
Witteveen-Kolk Syndrome | Microphthalmia | OMIM:613406 | |
Fraser Syndrome 1 | Anophthalmia, Bilateral microphthalmos | OMIM:219000 | |
Norrie Disease | Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens | ORPHA:649 | |
Microphthalmia, Syndromic 6 | Microphthalmia, Anophthalmia | OMIM:607932 | |
Pallister-Hall Syndrome | Microphthalmia | ORPHA:672 | |
Treacher Collins Syndrome 1 | Bilateral microphthalmos | OMIM:154500 | |
8Q24.3 Microdeletion Syndrome | Bilateral microphthalmos, Optic nerve hypoplasia | ORPHA:508488 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Hypoplasia of the iris, Microphthalmia | OMIM:175780 | |
Hydrolethalus Syndrome 1 | Microphthalmia | OMIM:236680 | |
Branchiooculofacial Syndrome | Microphthalmia, Anophthalmia | OMIM:113620 | |
Holoprosencephaly 2 | Microphthalmia | OMIM:157170 | |
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 | |
Craniofacial Microsomia 1 | Microphthalmia, Anophthalmia | OMIM:164210 | |
Microphthalmia, Syndromic 1 | Microphthalmia, Anophthalmia | OMIM:309800 |
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