Condition: Underdeveloped nasal alae


rs1555743003 in ASXL3 gene and Underdeveloped nasal alae PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

rs1555652383 in BPTF gene and Underdeveloped nasal alae PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.