Синдром Доннаї-Берроу
ORPHA:2143· ICD-10 Q87.8· Donnai-Barrow syndrome
Визначення(English summary)
A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal