CONGENITAL DISORDER OF GLYCOSYLATION CDG-In

rare (<1:1000000, 14 patients) autosomal recessive mutation in the RFT1 gene

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-In?

Accepted Answer

rare (<1:1000000, 14 patients)
autosomal recessive
mutation in the RFT1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ In

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612015

Question 4

Which enzymes are involved?

Accepted Answer

Protein RFT1 homolog

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-In
Synonym	CDG1N; RTF1-CDG
OMIM	612015 OMIM = Online Mendelian Inheritance of Men
Orphanet	244310
Protein (UniProt)	Protein RFT1 homolog
Gene locus	3p21.1
ICD	E77.8
Summary	rare (<1:1000000, 14 patients) autosomal recessive mutation in the RFT1 gene
Laboratory findings
Symptoms	ataxia behavior, abnormal or bizarre, confusion Coagulopathy/Coagulation factors dysmorphism epilepsy failure to thrive feeding difficulties, poor feeding hearing defect, deafness hepatomegaly (large liver) hepatomegaly (large liver) hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder intrauterine growth retardation inverted nipples mental retardation microcephaly (<2 SD for age) myoclonus onset, infancy onset, neonatal psychomotor retardation respiratory insufficiency seizures short stature thromboembolism