Синдром Якобсена
ORPHA:2308· ICD-10 Q93.5· Jacobsen syndrome
Визначення(English summary)
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.
- Поширеність
- Unknown
- Успадкування
- Not applicable, Unknown
- Вік початку
- Antenatal