CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iu

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iu?

Accepted Answer

rare
autosomal recessive
mutation in the DPM2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Iu

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615042

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iu
Synonym	CDG1U; DPM2-CDG
OMIM	615042 OMIM = Online Mendelian Inheritance of Men
Orphanet	329178
Protein (UniProt)
Gene locus	9q34.11
ICD	E77.8
Summary	rare autosomal recessive mutation in the DPM2 gene
Laboratory findings
Symptoms	cerebellar atrophy or hypoplasia contractures, joints early death feeding difficulties, poor feeding hypotonia microcephaly (<2 SD for age) onset, infancy onset, neonatal optic atrophy psychomotor retardation respiratory distress seizures strabismus