Синдром Коена
ORPHA:193· ICD-10 Q87.8· Cohen syndrome
Визначення(English summary)
A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Infancy, Neonatal