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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-In
CDG1N RTF1-CDG
612015
OMIM = Online Medalian Inheritance of Men
244310
3p21.1
rare (<1:1000000)
autosomal recessive
mutation in the RFT1 gene
symptoms
ataxia
Coagulopathy/Coagulation factors
epilepsy
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hepatomegaly (large liver)
hypertonia, spasticity
hypotonia
inverted nipples
mental retardation
microcephaly (<2 SD for age)
myoclonus
onset, infancy
seizures
short stature
laboratory finding
Literature
Kumandas Set al.Joubert syndrome: review and report of seven new casesEur J Neurol118505-5102004
Konrad MSchlingmann KP, Gudermann TInsights into the molecular nature of magnesium homeostasisAm J Physiol Renal Physiol2860F559-6052004
Gordon NSuccinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria)Eur J Paediatr Neurol85261-2652004
Chubanov Vet al.Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemiaProc Natl Acad Sci U S A10192894-28992004
Clark-Taylor TClark-Taylor BEIs autism a disorder of fatty acid metabolism? Possible dysfunction of mitochondrial beta-oxidation by long chain acyl-CoA dehydrogenaseMed Hypotheses626970-9752004