Among the four PH-GRAM domain mutations, three of them (p.Asn109IlefsTer17, p.Arg111LysfsTer24, p.Arg162Ter) are predicted to result in a truncated form of MTMR2 lacking the entire phosphatase domain, and except for the patient carrying p.Asn109IlefsTer17 with mild phenotype who is still young (5 years old), the other two already have a severe phenotype (facial weakness, stridor, dysphagia, skeletal deformities, vocal cord paralysis, and facial nerve palsy) corresponding to the predicted loss of enzymatic function of MTMR2. Here, MTMR2 is linked to Vocal cord paralysis.