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Апрозенцефалія з дизгенезією мозочка

ORPHA:1126· ICD-10 Q04.3· Aprosencephaly cerebellar dysgenesis

Визначення(English summary)

A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.

Поширеність
<1 / 1 000 000
Вік початку
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