Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Orpha code: 401959OMIM code:

Definition

Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.

Disease data
Classification

Malformation syndrome

ORPHA code
401959
OMIM code
-
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