Disorders


 

Isolated Microphthalmia 5


Synonym(s): MCOP5, Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

 

OMIM

GeneLocusProtein
MFRP11q23.3Membrane frizzled-related protein

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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