Table 6.

Deduction of phenotype severity through mutations in the HEXB gene through investigations of previous literature.

Mutation	Phenotype	References	Mutation	Phenotype	References
p.Trp57Cys	Juvenile	[64]	p.Cys360Arg	Unknown	[66]
p.Ser62Leu	Infantile	[65]	p.Pro417Leu	Adult	[4]
p.Ala97Pro	Unknown	[66]	p.Tyr456Ser	Adult	[71]
p.Cys137Tyr	Juvenile	[4]	p.Asp459Ala	Juvenile	[72]
p.Thr150Leu	Infantile	[4]	p.Gly483Ser	Infantile	[73]
p.Thr150Pro	Infantile	[47]	p.Gly484Glu	Infantile	[47]
p.Ile207Val	Unknown	[67]	p.Val493Gly	Infantile	[27]
p.Thr209Ile	Infantile	[47]	p.Asp494Gly	Juvenile or Adult	[74]
p.His212Asn	Infantile	[47]	p.Trp503Arg	Unknown	[66]
p.His235Tyr	Unknown	[68]	p.Pro504Ser	Adult	[4]
p.Ser255Arg	Unknown	[69]	p.Arg505Gln	Adult	[4]
p.Tyr266Asp	Infantile	[41]	p.Leu513Pro	Infantile	[75]
p.Gly282Glu	Infantile	[41]	p.Arg533His	Adult	[76]
p.Arg284Gln	Juvenile	[70]	p.Arg533Cys	Infantile	[47]
p.Thr295Arg	Unknown	[66]	p.Cys534Tyr	Infantile	[47]
p.Cys309Phe	Infantile	[47]	p.Arg539Cys	Unknown	[41]
p.Gly353Arg	Infantile	[4]	p.Ala543Thr	Unknown	[77]