OBO ID: DOID:0080567
Term Name: congenital disorder of glycosylation Ip Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1p
Definition: A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. https://www.ncbi.nlm.nih.gov/pubmed/22213132
References:
Ontology: Human Disease   (DOID:0080567)
OTHER congenital disorder of glycosylation Ip PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG11 Congenital disorder of glycosylation, type Ip 613661
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None