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PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5

Synonym(s): PRPS1-Related CMTX5, Rosenberg-Chutorian Syndrome

 

OMIM

Gene	Locus	Protein
PRPS1	Xq22.3	Ribose-phosphate pyrophosphokinase 1

 

For tests, please check "Related Disorders" when present.