Table 3.

Main MRI characteristics of our patient and reported patients with POLR1C mutations.

Patient	Diffuse Hypomyelination	Cerebellar Atrophy	Thin Corpus Callosum
Index	+	+	+
1 [19]	+	−	+
2 [19]	+	−	+
3 [19]	+	−	+
4 [19]	+	+	+
5 [19]	+	+	+
6 [19]	+	+	+
7 [19]	+	+	+
8 [19]	+	+	+
9 [20]	+	+	+
10 [22]	+	−	+
11 [22]	+	+	+
12 [22]	+	+	+
13 [22]	+	+	+
14 [22]	+	+	+
15 [22]	+	+	+
16 [22]	+	−	−
17 [22]	+	+	+
18 [22]	+	+	+
19 [22]	+	+	+
20 [22]	+	+	+
21 [22]	+	−	+
22 [22]	+	+	+
23 [22]	NA	NA	NA
24 [22]	+	+	+
25 [21]	+	−	NA
26 [21]	+	−	NA

MRI: magnetic resonance imaging; +: present; −: absent; NA: not available.