Disorders


 

Mental Retardation, X-Linked, Syndromic, Turner Type


Synonym(s): Mental Retardation and Macrocephaly Syndrome, MRXST

 

OMIM

GeneLocusProtein
HUWE1Xp11.22E3 ubiquitin-protein ligase HUWE1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, 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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