Polymicrogyria with optic nerve hypoplasia

Orpha code: 250972OMIM code:

Definicja

Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
250972
Kod OMIM
-
Kod ICD10
Q04.3
Kod ICD11
-

No additional description.

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