Condition: Fifth finger distal phalanx clinodactyly
rs1555652383
in
BPTF
gene and
Fifth finger distal phalanx clinodactyly
PMID 28942966
2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.