Our finding of a novel homozygous truncating allele in patient 1 (c.1879_1880del; p.Glu627LysfsTer61) adds further support for the alteration in TBC1D2B as a major cause of Ramon syndrome, given that only eighteen cases of this syndrome have been reported since 1967 [1,2,3,4,5,6,23,24]. Here, TBC1D2B is linked to Ramon syndrome.