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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
homozygous or compound heterozygous mutation in the RFT1 gene
symptoms
ataxia
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
Coagulopathy/Coagulation factors abnormal
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