Definition
A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.
Definition
A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.
Disease data
Classification
Disease
Synonyms
Agenesis of corpus callosum with chorioretinal abnormality
Agnezja ciała modzelowatego z zaburzeniami naczyniówkowo-siatkówkowymi
ORPHA code
50
OMIM code
304050
ICD10 code
Q04.0
ICD11 code
LD20.Y
No additional description.
Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl