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Лобарна голопрозенцефалія

ORPHA:93924· ICD-10 Q04.2· Lobar holoprosencephaly

Визначення(English summary)

A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.

Поширеність
1-9 / 100 000
Успадкування
Multigenic/multifactorial, Not applicable
Вік початку
Infancy, Neonatal