TABLE 1.

Clinical information of seven patients in our cohort.

ID	1	2	3	4	5	6	7
Gender	Female	Male	Male	Male	Male	Female	Male
Age (months)	75	69	60	59	60	46	31
Developmental delay	Moderate (32 months)	Severe (54 months)	Moderate (38 months)	Moderate (40 months)	Mild (32 months)	Moderate (29 months)	Moderate (20 months)
Age of walking (months)	17	24	18	28	19	18	20
Age of standing (months)	15	18	/	18	/	11	18
First word spoken (months)	44	18	55	30	18	44	Verbal disability
Developmental regression	−	−	−	−	−	−	+
ASD	+	−	+	−	−	−	−
Sleeping problem	−	−	+	−	−	−	+
Seizures	+	+	+	+	+	+	+
Neuroimaging	+	−	−	−	+	−	−
Metabolic screening	−	−	−	−	−	−	−