Table 1.

Clinical features of patients with DOCK3 mutations

	Case 1	Case 2*
	Patient 1	Patient 1	Patient 2
Sex	Male	Female	Male
Age	2 years 4 months	12 years	11 years
Mutation	Homozygous	Compound heterozygous	Compound heterozygous
Base change	170 kb deletion	458 kb deletion, p. Gln128*	458 kb deletion, p. Gln128*
Clinical findings	Developmental delay, hypotonia, gait ataxia, and facial dysmorphism including bilateral epicanthal folds, upturned nasal tip/anteverted nares, and prominent cheeks	Developmental delay, hypotonia, gait ataxia, and mild dysmorphism including a prominent chin, high arched palate, malocclusion, and long fingers	Developmental delay, hypotonia, gait ataxia, and mild dysmorphism including downslanting palpebral fissures, long face, and a pointed chin
Reference	This study	Helbig et al. (2017)

^*Two patients in case 2 are siblings.