Table 2.

Background and basic neurodevelopmental information on children with SLC13A5 mutations in this study.

Subject	Family	Age (years)	Sex	Motor delay	Language delay	Regression	Muscle tone	Movement disorder	MRI brain	Dental issues
1	A	11.8	F	Y	Y	Y	Low	Y-dystonia	Normal	Teeth hypoplasia
2	A	2	M	Y	Y	N	Low	N	Normal	Teeth hypoplasia
3	B	2.9	F	Y	Y	Y	NR	NR	Normal	Teeth hypoplasia + Gingival hyperplasia
4	C	5.7	F	Y	Y	N	Low	N	Focal frontal lobe thickening	Gingival hyperplasia
5	C	8.7	M	Y	Y	N	Low	N	Normal	Gingival hyperplasia
6	D	9.6	F	Y	Y	NR	NR	NR	Normal	NR
7	E	18.7	F	Y	Y	N	Normal	N	Hyperintense foci in parietal white matter	Teeth hypoplasia + amelogenesis imperfecta
8	E	15.5	M	Y	Y	N	Normal	N	Normal	Amelogenesis imperfecta
9	F	4	M	Y	Y	Y	Increased	Y-dystonia	Focal loss of gray matter	N

F, female; M, male; Y, yes; N, no; NR, not reported.