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GENE - TERM ANNOTATION REPORT

RGD ID: 1317536
Species: Mus musculus
RGD Object: Gene
Symbol: Dennd6b
Name: DENN domain containing 6B
Acc ID: DOID:0080559
Term: congenital disorder of glycosylation Ig
Definition: A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17506107 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Dennd6b ISODENND6B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ALG12-congenital disorder of glycosylationPMID:15639192 PMID:28492532 PMID:31481313
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