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GENE - TERM ANNOTATION REPORT

CRRD ID: 14171688
Species: Sus scrofa
CRRD Object: Gene
Symbol: SSR4
Name: signal sequence receptor subunit 4
Acc ID: DOID:0080574
Term: congenital disorder of glycosylation Iy
Definition: A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26264460
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7367497240710OMIM  
 ISSRGD:127331329068941ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y

PMID:24218363
 ISSRGD:127331329068941ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y

PMID:25326635, PMID:25741868, PMID:26264460
 ISSRGD:127331329068941ClinVarClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y

PMID:26264460
 ISSRGD:127331329068941OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.