Condition: Arhinia, choanal atresia, and microphthalmia


rs1057519639 in SMCHD1 gene and Arhinia, choanal atresia, and microphthalmia PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

PMID 29748383 2018 FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

PMID 28067911 2017 De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.