CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIm (SLC35A2-CDG)

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIm (SLC35A2-CDG)?

Accepted Answer

very rare
X-linked dominant
Somatic mosaicism (males)
mutation in the SLC35A2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIm

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300896

Question 4

Which enzymes are involved?

Accepted Answer

UDP-galactose translocator

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIm (SLC35A2-CDG)
Synonym	CDG2M; SLC35A2-CDG
OMIM	300896 OMIM = Online Mendelian Inheritance of Men
Orphanet	356961
Protein (UniProt)	UDP-galactose translocator
Gene locus	Xp11.23
ICD	E77.8
Summary	very rare X-linked dominant Somatic mosaicism (males) mutation in the SLC35A2 gene
Laboratory findings
Symptoms	blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy developmental delay dysmorphism EEG abnormalities [-] encephalopathy epilepsy hypotonia infections (severe or recurrent) inverted nipples microcephaly (<2 SD for age) MRI, brain, abnormalities [-] nystagmus onset, infancy retinitis pigmentosa seizures skeletal changes, skeletal abnormalities strabismus