skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency
neuro-immuno-skeletal dysplasia syndrome due to extl3 (exostosin like glycosyltransferase 3) deficiency