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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIm
CDG2M SLC35A2-CDG
300896
OMIM = Online Medalian Inheritance of Men
356951
Xp11.23
very rare
X-linked dominant
somatic mosaicism (males)
symptoms
cerebellar atrophy or hypoplasia
cerebral atrophy
dysmorphism
encephalopathy
epilepsy
hypotonia
infections (severe or recurrent)
inverted nipples
microcephaly
nystagmus
onset, infancy
retinitis pigmentosa
seizures
strabismus
laboratory finding
Literature
Lee HFet al.Leigh syndrome: clinical and neuroimaging follow-upPediatr Neurol40288-932009
Miao Net al.Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesiaAnesth Analg1092372-3782009
Worgall Set al.Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNAHum Gene Ther195463-4742008
Patel NCDavenport RD, Patel HNTreatment of seizures in a patient with Battens diseaseNurse Pract33106-92008
Rakheja DNarayan SB, Bennett MJThe function of CLN3P, the Batten disease proteinMol Genet Metab933269-2742008