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.