PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Orpha code: 438213OMIM code: 616158

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
438213
Kod OMIM
616158
Kod ICD10
G40.4
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl