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.
Mit változtat a diagnózis
Diagnosis guides screening for heart, kidney, hearing, immune and blood sugar problems.
Más néven
Kabuki make-up syndrome; KMS; Niikawa-Kuroki syndrome; NKS
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Kabuki syndrome 1
- Kabuki syndrome 2
