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.