congenital disorder of glycosylation Ig

Term ID

DOID:0080559

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

• GARD:9833
• MIM:607143
• ORDO:79324

Ontology

Human Disease   ( DOID:0080559 )