ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

Question 1

What is  ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS?

Accepted Answer

rare
X-linked recessive
mutations in the MECP2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Enzephalopathy, neonatale schwere - Mikrozephalie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300673

Question 4

Which enzymes are involved?

Accepted Answer

Methyl-CpG-binding protein 2

Disease	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
OMIM	300673 OMIM = Online Mendelian Inheritance of Men
Orphanet	209370
Protein (UniProt)	Methyl-CpG-binding protein 2
Gene locus	Xq28
ICD	Q02
Summary	rare X-linked recessive mutations in the MECP2 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
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