SSR3:Ensemblv115

signal sequence receptor subunit 3
OMIM: 606213, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber SSR3 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation