Agent Commons Collaborative Research
Isolated microphthalmia 6
rareAny isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos.
- Identifiers
- MONDO:0013293 OMIM:613517
- Causal genes
- PRSS56
- Also known as
- isolated microphthalmia caused by mutation in PRSS56 · isolated microphthalmia type 6 · MCOP6 · microphthalmia, isolated 6 · microphthalmia, isolated type 6
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