Table 1.

Family comparative information about motor and neurodevelopmental milestones.

	Propositus	Older brother (deceased 12 years)	Uncle (deceased 20 years)
Diagnosis	Pre-natal	4 years	8 years
ERT/HSCT	6 ERT infusions followed by HSCT	Started ERT at 6 years	Never received ERT
Head support	2 months	4–5 months	6 months
Sat unaided	5 months	8–9 months	9 months
Babbled	5–6 months	After 1 year	1 year and 6 months
Crawled	7 months	10 months	1 year
Walked unaided	1 year	1 year and 1 month	1 year and 8 months
Toilet trained	4 years	Never	Never
Self-feeding	3 years	Never	Never
Shower unaided	5 years	Never	Never
Reading/writing	Beginning to read and write	Never	Never
Hidrocephalus/shunt placement	Never	4 years	8 months
Stopped walking	–	10 years	10 years