Table 2. Clinical features in eight patients with GNPTAB c.10A>C/p.K4Q ML.

Patient	1	2	3	4	5	6	7	8
Gender	Male	Male	Male	Female	Female	Male	Female	Female
Pregnancy term (weeks)	39	39	36	39	41	40	40	42+
Birth weight (g)	3200	3430	2390	3060	3290	2520	3290	3970
Birth length (cm)	53	53	49	54	54
Birth OFC (cm)	33	34		35	34
Age at first signs
Craniofacial	1 day	1 day	9 months	1 day	1 day	1 day	1 day	1 day
Skeletal	6 months	1 day	9 months	8 months	5 months	1 day	1 day	1 day
Age at ML diagnosis	22 months	33 months	23 months	26 months	7 months	1 month	2 weeks	2 weeks
Age at motor milestones
Sitting	12 months	18 months	12 months	18 months	9 months	9 months	9 months	9 months
Crawling	14 months	18 months		36 months	12 months	11 months	12 months	12 months
Walking	20 months	30 months	18 months	7 years	21 months	42 months	42 months	42 months
Max height (cm)	80.5	87.0	88.0		90		84.5	87.8
Age at max height (years)	7.5	12	22		26		13	15
Age at death			23 years	21 years		24 years	14 years

Patients are from four unrelated families. Patients 4–8 are siblings.