Condition: Gastrointestinal dysmotility
rs1555639076
in
BPTF
gene and
Gastrointestinal dysmotility
PMID 28942966
2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1557043622
in
SLC35A2
gene and
Gastrointestinal dysmotility
PMID 30817854
2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.