Table 2.

Clinical phenotypes and inheritance patterns of patients with various missense mutations in the motor domain of KIF1A.

Mutation	Phenotype	Intellectual Disability	Transmission	Mutation	Phenotype	Intellectual Disability	Transmission
p.S58L	Complicated	Mild	De novo	p.R216C	Complicated	Severe	De novo
p.S69L	Pure spastic	No	Familial AD	p.R216H	Complicated	Moderate	De novo
p.T99M	Complicated	Yes/Severe	De novo	p.R216P	Complicated	Yes	De novo
p.G102D	Complicated	Mild	De novo	p.L249Q	Complicated	Moderate	De novo
p.G102S	Complicated	Mild	Sporadic	p.E253K	Complicated	Severe	De novo
p.V144F	Complicated	Moderate	De novo	p.A255V	Pure spastic**	No	Familial AR
p.R167C	Complicated*	Mild	De novo	p.T258M***	Complicated	Moderate/Mild	Familial AD
p.G199R	Complicated	Severe	De novo	p.R307Q	Complicated	Severe	De novo
p.A202P	Complicated	Yes	De novo	p.R316W	Complicated	Mild	De novo
p.S215R	Complicated	Yes	De novo	p.R350G	Complicated	No	Familial AR

^*Another case of pure form reported^15,23.

^**Another case of complicated form reported^20,21.

^***New mutation identified in this study.