The LCSH region encompasses 151 genes, of which 47 are OMIM genes, of which 8 are involved in diseases with an AR inheritance pattern: Ehlers-Danlos syndrome (FKBP14), Hemolytic anemia (NT5C3A), Diaphanospondylodysostosis (BMPER), Primary ciliary dyskinesia (CILD6), Pyle disease (SFRP4), Glutaric acid III (C7ORF10), Bardet-Biedl syndrome (BBS9) and Trichothiodystrophy-4 (MPLKIP). Here, SFRP4 is linked to Pyle disease.