PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome


Engelsk navn: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome


Definisjon

A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.

Fra Orphanet

ORPHA: 438213
Klassifiseringsnivå: Disorder
ICD-10: G40.4

Les mer om PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome på orpha.net

Mer informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
Søk på PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome på helsebiblioteket.no


Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)