Table 1.

Summary of the clinical features of patients with UFM1 and UFC1 mutations

ID	12DG0178	12DG1577	14DG0050	16DG1614	MDL-17-3196	MDL-17-3892	17DG0828	ID76366	UK1	UK2	10DG0945	10DG0946
Gene	UFC1	UFC1	UFC1	UFC1	UFC1	UFC1	UFC1	UFC1	UFM1	UFM1	UFM1	UFM1
Mutation	c.317C>T p.(Thr106Ile)	c.317C>T p.(Thr106Ile)	c.317C>T p.(Thr106Ile)	c.317C>T p.(Thr106Ile)	c.317C>T p.(Thr106Ile)	c.317C>T p.(Thr106Ile)	c.317C>T p.(Thr106Ile)	c.68G>A p.(Arg23Gln)	c.241C>T p.(Arg81Cys)	c.241C>T p.(Arg81Cys)	c.241C>T p.(Arg81Cys)	c.241C>T p.(Arg81Cys)
Age	16 years	23 years	3 years	5 years	5 years	31 months	8 years	4 years	13 months	13 months	2 years	1 year
Gender	F	F	F	F	F	F	F	M	F	M	M	M
Microcephalya	+	+	-	+	+	+	+	+	+	+	+	+
Short Stature	+	+	-	+	+	+	+	+	+	+	+	+
Underweight	+	+	+	+	+	+	+	+	+	+	+	+
GDD	+	+	+	+	+	+	+	+	+	+	+	+
Seizures	+	-	-	+	+	-	-	+	+	+	+	+

GDD = global developmental delay; F = female; M = male.

^aMicrocephaly was always secondary i.e. postnatal.