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Summary
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
300673
OMIM = Online Medalian Inheritance of Men
209370
Xq28
rare
X-linked recessive
mutations in the MECP2 gene
symptoms
abnormal movement
apnea
developmental delay
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hyperreflexia
hypotonia
mental retardation
microcephaly (<2 SD for age)
myoclonus
onset, neonatal
respiratory insufficiency
seizures
laboratory finding
no specific laboratory findings (P, S, U ,CSF)
Literature
Setchell KD,et al.Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver diseaseJ Clin Invest10291690-17031998
Huang HY,et al.Novel Mutations in the 3+¦-hydroxy-Ôêå5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal CholestasisChin Med J (Engl)129198-1002016