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Полімікрогірія з гіпоплазією зорового нерва

ORPHA:250972· ICD-10 Q04.3· Polymicrogyria with optic nerve hypoplasia

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal