Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
MIM:271640 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1

Xenbase Genes: b3galt6

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010075 - spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

Disease Ontology (DO):
DOID:0112198 - spondyloepimetaphyseal dysplasia with joint laxity type 1