Cornelia de Lange syndrome
A developmental disorder caused by variants in NIPBL, SMC1A, SMC3, RAD21, HDAC8 or BRD4, with a wide range of severity.
Co se diagnózou změní
Diagnosis guides monitoring for associated problems such as reflux, heart defects, hearing and vision issues.
Známé také jako
Brachmann-de Lange syndrome; CDLS
Zahrnuje 6 příbuzných podtypů ↓Skrýt podtypy ↑
- Cornelia de Lange syndrome 1
- Cornelia de Lange syndrome 2
- Cornelia de Lange syndrome 3
- Cornelia de Lange syndrome 4
- Cornelia de Lange syndrome 5
- Cornelia de Lange syndrome 6
