severe neonatal-onset encephalopathy with microcephaly
An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.
MONDO:0015653
monogenic epilepsy
is_a
MONDO:0020070
neonatal epilepsy syndrome
is_a
MONDO:0100198
Mendelian encephalopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
encephalopathy, neonatal severe, X-linked recessive
exact
severe congenital encephalopathy due to MECP2 mutation
exact
severe neonatal encephalopathy due to MECP2 mutations
exact