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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc CDG-ICC
CDG1cc
301031
OMIM = Online Medalian Inheritance of Men
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Xp21.1
very rare
X-linked recessive
mutation in the MAGT1 gene
symptoms
behavior, abnormal or bizarre, confusion
developmental delay
dysmorphism
hepatomegaly (large liver)
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, childhood
laboratory finding
no specific laboratory findings (P, S, U ,CSF)
Literature
Ono Eet al.Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological featuresClin Pediatr Endocrinol25223-352016