Голопрозенцефалія
ORPHA:2162· ICD-10 Q04.2· Holoprosencephaly
Визначення(English summary)
A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominant
- Вік початку
- Antenatal, Neonatal