Condition: Short palpebral fissure
rs1555743003
in
ASXL3
gene and
Short palpebral fissure
PMID 27075689
2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1425998598
in
BPTF
gene and
Short palpebral fissure
PMID 28942966
2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs864309487
in
GMNN
gene and
Short palpebral fissure
PMID 26637980
2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
rs759103701
in
MYCN
gene and
Short palpebral fissure
PMID 15821734
2005 MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.