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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 (<2 SD for age)
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