Disease: Kabuki make-up syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.010 Biomarker disease BEFREE A 16-year-old girl with Kabuki syndrome and a 12-year-old boy, both with a CVID-like humoral immunodeficiency on immunoglobulin replacement treatment, developed during follow-up an inflammatory complication radiologically, clinically, and histologically compatible with GLILD. 29532571 2018