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.