Syndromic Microphthalmia Type 5
| Disease Aliases (13) | Mcops5 Microphthalmia syndromic 5 Otx2 syndromic microphthalmia Otx2-related eye disorders Retinal dystrophy, early-onset, with or without pituitary dysfunction Retinal dystrophy, early-onset, with pituitary dysfunction Retinal dystrophy, early-onset, without pituitary dysfunction Syndromic microphthalmia type 5 Syndromic microphthalmia/anophthalmia due to otx2 mutation Microphthalmia, syndromic 5 Microphthalmia, syndromic 5; mcops5 Microphthalmia, syndromic type 5 Syndromic microphthalmia caused by mutation in otx2 |
Associated Genes (1) NCBI-RefSeq: OTX2 (Orthodenticle homeobox 2) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Syndromic microphthalmia type 5 | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |