LRIG2 and Ochoa syndrome: Putting this new family in the context of all reported UT-disease associated LRIG2 variants, as depicted in Figure 1d and Table 1, it is evident that biallelic stop or frame shift variants, consistent with a putative loss of function mechanism, can be associated with a complete UFS phenotype, combining the characteristic grimace with UT disease, as reported in this and other17,18 studies.