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SGMS2

sphingomyelin synthase 2

HCNC Approved Symbol
SGMS2 (HGNC:28395)
Genomic Coordinates
4:107,824,563 - 107,915,047 (4q25)
Synonyms
MGC26963, SMS2
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia
126550AD

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the SGMS2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results