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Summary Literature (0)
DOID:0080564 - congenital disorder of glycosylation Il

Disease Ontology Definition:A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.

Synonyms: congenital disorder of glycosylation 1l

Xenbase Genes : alg9


MIM:
MIM:608776 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type I (is_a)