Condition: Flatfoot
rs1555743003 in
ASXL3 gene and
Flatfoot
PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1555652383 in
BPTF gene and
Flatfoot
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1057524157 in
DEAF1 gene and
Flatfoot
PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.