DISEASE: MECP2-related severe neonatal encephalopathy
Entry
H01211 Disease
Name
MECP2-related severe neonatal encephalopathy
Description
MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often leads to death at an early age. Mutations in the MECP2 gene cause this disease, and females with these same mutations typically have a disorder called Rett syndrome. Most boys with this disorder have been identified because they have female siblings with Rett syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
19 Certain conditions originating in the perinatal period
Neurological disorders specific to the perinatal or neonatal period
KB03 Neonatal encephalopathy
H01211 MECP2-related severe neonatal encephalopathy
