Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis (MFHIEN)

Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis, also known as mfhien, is related to noonan syndrome 1. An important gene associated with Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis is AMMECR1 (AMMECR Nuclear Protein 1). Affiliated tissues include heart and bone, and related phenotypes are short neck and cataract