CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG-ICC

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG-ICC?

Accepted Answer

very rare

X-linked recessive

mutation in the MAGT1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 301031

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG-ICC
Synonym	CDG1cc
OMIM	301031 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	Xp21.1
ICD
Summary	very rare X-linked recessive mutation in the MAGT1 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	behavior, abnormal or bizarre, confusion developmental delay dysmorphism hepatomegaly (large liver) intellectual disability/intellectual developmental disorder onset, childhood