The physiological relevance of resorptive processes by this receptor is underscored by phenotypes seen in humans with familial LRP2 deficiency (Donnai-Barrow/facio-oculo-acoustico-renal (DB/FOAR) syndrome and microforms of holoprosencephaly, HPE) featuring impaired development of the neuroepithelium into the forebrain (Kantarci et al. 2007; Rosenfeld et al. 2010). Here, LRP2 is linked to holoprosencephaly.