Table 1.

Clinical information of 553 patients.

Sex (n (%))
Male	265 (47.9)
Female	288 (52.1)
Age at symptom onset (years)	1.4(0–21)
Age at first access to a tertiary hospital (years)	1.8(0–22)
Interval between symptom onset and first medical access (months)	3.9 (0–238)
Number of visited tertiary hospitals for diagnosis (n (%))
1	62 (11.2)
2	277 (50.1)
3	178 (32.2)
4	32 (5.8)
5	4 (0.7)
Age at WES (years)	7.4(0–37)
Interval between the first access and WES (months)
Patients aged 0–10 years	34.0 (0–100)
Patients aged > 10 years	114.5 (7–434)
Primary clinical diagnosis (n (%))
Rett syndrome-like encephalopathy	72 (13.0)
Mitochondrial encephalopathy	49 (8.9)
Epileptic encephalopathy	51 (9.2)
Neuromuscular disorder	37 (6.7)
Leukodystrophy	27 (4.9)
Hereditary spastic paraplegia	34 (6.1)
Others	283 (51.2)
Number of involved specialists for diagnosis (n (%))
1–2	378 (68.4)
3–5	152 (27.5)
>5	23 (4.2)
Straight-line distance from home to the clinic, km (n (%))
<20	186 (33.6)
20–100	180 (32.5)
>100	187 (33.8)