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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIm (SLC35A2-CDG)
CDG2M SLC35A2-CDG
300896
OMIM = Online Medalian Inheritance of Men
356961
Xp11.23
very rare
X-linked dominant
Somatic mosaicism (males)
mutation in the SLC35A2 gene
symptoms
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
dysmorphism
encephalopathy
epilepsy
hypotonia
infections (severe or recurrent)
inverted nipples
microcephaly (<2 SD for age)
nystagmus
onset, infancy
retinitis pigmentosa
seizures
skeletal changes, skeletal abnormalities
strabismus
laboratory finding
EEG abnormalities -
MRI, brain, abnormalities -
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
Al-Owain M,et al.Clinical and biochemical features associated with BCS1L mutationJ Inherit Metab Dis365813-8202013
Rakheja DNarayan SB, Bennett MJThe function of CLN3P, the Batten disease proteinMol Genet Metab933269-2742008
Shaker M,Lorigiano TH, Vadlamudi AXq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebj+ªrg syndromeAnn Allergy Asthma Immunol1166578-5792016
Tein IImpact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandoras boxDev Med Child Neurol574304-3062015