Disease association ontology term - MONDO:0800044 - congenital disorder of deglycosylation 1

Term summary

ID

MONDO:0800044

Name

congenital disorder of deglycosylation 1

Ontology or CV name

Disease association

Definition

A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.

Parents

• excluded_subClassOf syndromic intellectual disability
• is_a inborn carbohydrate metabolic disorder
• is_a congenital disorder of deglycosylation
• is_a glycoprotein metabolism disease

Annotation