Term Name: congenital disorder of glycosylation Il
Synonyms: congenital disorder of glycosylation 1l
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.
Ontology: Human Disease [DOID:0080564]   ( DOID:0080564 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type I