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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 EIEE55
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14 GPIBD14 PIGP-CDG
617599
OMIM = Online Medalian Inheritance of Men
---
21q22.13
very rare
autosomal recessive
mutation in the PIGP gene
symptoms
contractures, joints
defect of walking, running, rising or climbing
encephalopathy
epilepsy
feeding difficulties, poor feeding
growth retardation, poor growth
hyperreflexia
hypotonia
impaired visual acuity
intellectual disability/intellectual developmental disorder (ID/ IDD)
microcephaly (<2 SD for age)
onset, infancy
psychomotor retardation
seizures
speech development, delayed, abnormal
laboratory finding
EEG abnormalities -
no specific laboratory findings (P, S, U ,CSF) urine
MRI, brain, abnormalities -
Literature
Sandal G,Akbay S, Ozen MAcquired Bartter-like syndrome association with netilmicin therapy in an extremely low birth weight infantRen Fail361123-1252014
Steiner RW,Omachi ASA Bartters-like syndrome from capreomycin, and a similar gentamicin tubulopathyAm J Kidney Dis73245-2491986