Disorders


 

Pontocerebellar Hypoplasia Type 2D


 

OMIM

GeneLocusProtein
SEPSECS4p15.2O-phosphoseryl-tRNA(Sec) selenium transferase

Laboratory Test Method Prenatal Carrier *
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region

* 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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