Pachygyria-intellectual disability-epilepsy syndrome

Orpha code: 2798OMIM code: 600176

Definition

A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.

Disease data
Classification

Malformation syndrome

Synonyms
Kuzniecky syndrome
Zespół Kuzniecky'ego
ORPHA code
2798
OMIM code
600176
ICD10 code
G40.4
ICD11 code
-

No additional description.

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