Table 1. Genotype-phenotype correlation for p.L634S (p.L618S) mutation in previously reported KD patients.

Patient No.	Age at onset	Phenotype	Genotype	Reference
1	51 y	Adult	p.[L618S];[L618S]	(16)
2	10–20 y	Adult	p.[L618S]; [IVS6 + 5G-A]	(8)
3	8 m	Late-infantile	p.[P302A];[L618S]	(10)
4	3 y	Juvenile	p.[P302A];[L618S]	(17)
5	56 y	Adult	p.[L618S];[?]	(17)
6	35 y	Adult	p.[L618S];[G646A]	(17)
7	14 y	Adult	p.[L618S];[?]	(17)
8	2 y	Late-infantile	p.[L618S];[?]	(17)
9	1 y and 2 m	Late-infantile	c.[1719dupT];p.[L618S]	(17)
10	11 m	Late-infantile	c.[1719dupT];p.[L618S]	(17)
11	10 m	Late-infantile	p.[F350V];[L618S]	(18)
12	<2 y	Late-infantile	p.[R129X];[L618S]	(18)
13	8 y and 10 m	Juvenile	c.[195+1G>A];p.[L618S]	(18)
14	<5 y	Juvenile	p.[P318L];[L618S]	(18)
15	20 y	Adult	p.[L618S];[L618S]	(18)

KD, Krabbe disease; y, year; m, month.