OBO ID: DOID:0080559
Term Name: congenital disorder of glycosylation Ig Search Ontology:
Synonyms:
  • ALG12-congenital disorder of glycosylation
  • congenital disorder of glycosylation 1g
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. (2)
References:
Ontology: Human Disease   (DOID:0080559)
OTHER congenital disorder of glycosylation Ig PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG12 Congenital disorder of glycosylation, type Ig 607143
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None