Kabuki syndrome
A multi-system condition caused by KMT2D (type 1) or KDM6A (type 2) variants, with characteristic facial features, short stature and intellectual disability, and sometimes heart, kidney and immune problems or low blood sugar.
Co se diagnózou změní
Diagnosis guides screening for heart, kidney, hearing, immune and blood sugar problems.
Známé také jako
Kabuki make-up syndrome; KMS; Niikawa-Kuroki syndrome; NKS
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- Kabuki syndrome 1
- Kabuki syndrome 2
