Table 2.

Summary of the clinical features of the present study and published case associated with FRMD4A mutation.

References	Gender	Age	Population	Family history	Mutations in FRMD4A	Exons	Ataxia	MRI	Other information
Present study	Male	3 years	Han Chinese	—	c.1830G>A c.2973G>C	20 23	F0C6	Abnormal genu of corpus callosum and the splenium of corpus callosum	Macrocephaly
Fine D et al.	Male	6 years	Israeli Bedouin	F0C6	Homozygousc. 2134_2146dup13	22	F0C6	Partial to near full agenesis of corpus callosum and various degrees of hypoplasia of the vermis and cerebellum	Microcephaly