COG0552, a female individual, was born at term with a weight of 4.79 kg (+2.5 SD) and length of 57 cm (+3.6 SD). She was floppy in the neonatal period with poor feeding. She developed no new medical problems in childhood. At the age of 4.2 years she was reported to be delayed in her development. She had a height of 108 cm (+1.2 SD), head circumference of 55 cm (+3.2 SD), and weight of 24 kg (+2.7 SD).