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ZIRC
OBO ID: DOID:0080563
Term Name: congenital disorder of glycosylation Ik Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1k
Definition: A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (2)
References:
Ontology: Human Disease   (DOID:0080563)
OTHER congenital disorder of glycosylation Ik PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG1 Congenital disorder of glycosylation, type Ik 608540
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None