XYLT1-CDG

Definition

XYLT1-CDG is a rare congenital disorder of glycosylation characterized by moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophyrs and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, short femoral necks with coxa valga, clinodactyly and broad thumbs.

Disease data

Classification

Disease

ORPHA code

370930

OMIM code

ICD10 code

E77.8

ICD11 code

*Soruce