ZFIN Human Disease: congenital disorder of glycosylation Ig

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:	GARD:9833 OMIM:607143 ORDO:79324
Ontology:	Human Disease ( DOID:0080559 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

OTHER congenital disorder of glycosylation Ig PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG12	alg12	Congenital disorder of glycosylation, type Ig	607143

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None