Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Definition:

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) is an X-linked recessive syndrome caused by mutations in AMMECR1. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex).

References:

[1]. Gaia Andreoletti, et al. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. J Med Genet. 2017 Apr;54(4):269-277. [Content Brief]

[2]. Lina Basel-Vanagaite, et al. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. Gene. 2017 Mar 30;606:47-52. [Content Brief]

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