Disease association ontology term - MONDO:0012117 - ALG9-congenital disorder of glycosylation

Term summary

ID

MONDO:0012117

Name

ALG9-congenital disorder of glycosylation

Ontology or CV name

Disease association

Definition

A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

Parents

• is_a congenital disorder of glycosylation type I
• is_a disorder of protein N-glycosylation

Annotation