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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 EIEE44 DD
617132
OMIM = Online Medalian Inheritance of Men
442835
3q22.1
rare
autosomal recessive
mutation in the UBA5 gene
UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation [Colin E et al. 2016]
symptoms
abnormal movement
cerebellar atrophy or hypoplasia
cerebral atrophy
dysmorphism
dystonia
encephalopathy
epilepsy
eye defect beginning in infancy or childhood
failure to thrive
feeding difficulties, poor feeding
hypotonia
infantile spasms
intellectual disability/intellectual developmental disorder (ID/ IDD)
irritability
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
seizures
short stature
laboratory finding
MRI, brain, abnormalities -
no specific laboratory findings (P, S, U ,CSF)
EEG abnormalities -
Literature
Riess S,et al.ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblingsMol Genet Metab1101170-1752013
Lepais L,et al.ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutationAm J Med Genet A167112748-27542015
Barone R,et al.DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyAnn Neurol724550-5582012