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Summary
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION (CDGF)
FUT8
618005
OMIM = Online Medalian Inheritance of Men
---
14q23.3
very rare
autosomal recessive
mutation in the FUT8 gene
symptoms
dysmorphism
failure to thrive
feeding difficulties, poor feeding
glaucoma
heart involvement
hirsutism
hypoglycemia
hypothyroidism
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
intrauterine growth retardation
limb abnormalities, limb deformities
microcephaly (<2 SD for age)
nephrocalcinosis
neutropenia (decreased neutrophils)
onset, fetus
onset, infancy
onset, neonatal
polyhydramnion (maternal)
psychomotor retardation
respiratory insufficiency
seizures
short stature
skeletal changes, skeletal abnormalities
laboratory finding
Literature
Franceschetti S,Canafoglia LSialidosesEpileptic Disord182289-932016
Caciotti A,et al.Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patientsJ Neurol256111911-19152009