Key features
Microcephaly, Hypoglycaemia, Diabetes Mellitus, Hypothyreosis, Epilepsy,
Hypertonus, Obesity, Micropenis
Ethics approval was given by the Regional Ethical Review Board in
Stockholm, Sweden (ethics permit number 2012/2106-31/4). Written consent
from the family was provided for genetic studies and for the publication
of the cases including pictures.