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Human Disease

congenital disorder of glycosylation Il

Term ID
DOID:0080564
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. https://www.ncbi.nlm.nih.gov/pubmed/26453364
References
Ontology
Human Disease   ( DOID:0080564 )
Relationships
is a type of
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Genes Involved
Zebrafish Models