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DO Term : congenital disorder of glycosylation Il [DOID:0080564] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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,
  • 608776,
  • OMIM:608776,
  • GARD:9839,
  • ORDO:79328
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