This website provides information on patients with mutations in the MAP4K4 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the MAP4K4 gene is a multisystem disorder including developmental delay, intellectual disability, short stature, craniofacial and skeletal abnormalities, congenital heart disease, and genitourinary tract abnormalities.
Not all individuals with a mutation in the MAP4K4 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MAP4K4 gene.
Jihoon G. Yoon, MD, PhD, Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, South Korea, YOONJH@yuhs.ac
Jung Woo Yu, MD, PhD, Department of Neurosurgery, Yonsei University College of Medicine, Seoul, South Korea, TRAJECTORYOFSTAR@yuhs.ac