In addition, it was decided not to be included in this systematic analysis a likely pathogenic variant of FGFR1 [missense variant (c.1591 G > A, p.Glu531Lys)] in a patient with Kallmann syndrome, diabetes insipidus and holoprosencephaly because it is believed that diabetes insipidus may be related to holoprosencephaly. Here, FGFR1 is linked to holoprosencephaly.