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Metadata
ID DOID:0080559
Name 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.
https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation, https://www.ncbi.nlm.nih.gov/pubmed/17506107
Xrefs

GARD:9833

OMIM:607143

ORDO:79324

Synonyms

ALG12-congenital disorder of glycosylation [EXACT]

congenital disorder of glycosylation 1g [EXACT]

Parent Relationships

is_a congenital disorder of glycosylation type I

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