Cobblestone lissencephaly without muscular or ocular involvement

Orpha code: 352682OMIM code: 615191

Definition

A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.

Disease data
Classification

Disease

Synonyms
Cobblestone lissencephaly without muscular or eye involvement
Lizencefalia typu 2 bez zaangażowania mięśni lub oczu
Lizencefalia typu kostki brukowej bez zaangażowanie mięśni lub oczu
Lissencephaly type 2 without muscular or eye involvement
Lissencephaly type 2 without muscular or ocular involvement
ORPHA code
352682
OMIM code
615191
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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