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Metadata
ID DOID:0080564
Name congenital disorder of glycosylation Il
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
Xrefs

GARD:9839

OMIM:608776

ORDO:79328

Subsets

DO_rare_slim

Synonyms

congenital disorder of glycosylation 1l [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type I

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