Disorders


 

Pontocerebellar Hypoplasia, Type 1B


 

OMIM

GeneLocusProtein
EXOSC39p11Exosome complex component RRP40

Laboratory Test Method Prenatal Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic  
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands  
Centogene AG, Rare Disease Company - Rostock, Germany  

* 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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