Table 2. Previously reported cases with intron variants.

Publication	Zygosity	Allele 1	Allele 2	Age of onset	Origin	Phenotype	Initial signs	Vison impairment
Zhao et al., 2018	Hetero	c.1901T>C_p.L634S	c.195+1 G>A	8 years 10 months	Chinese	Juvenile	Vision impairment	Yes
Tappino et al., 2010	Hetero	c.1901T>C_p.L634S	c.1489+1G>A	7 months	NA	Infantile	Spasticity	No
Furuya et al., 1997	Hetero	c.1901T>C_p.L634S	c.582+5G>A	~20 years	Japanese	Adult	Spastic paresis	No
Our case	Hetero	c.658C>T p.Arg220*	c.328+5G>T	~6 months	Chinese	Infantile	Psychomotor regression	No

*, nonsense variant.