H00443
H number H00443
Name Osteoglophonic dysplasia (OD);
Osteoglophonic dwarfism (OGD)
Description Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported.
Category Skeletal dysplasia