OBO ID: DOID:0080566
Term Name: congenital disorder of glycosylation In Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1n
Definition: A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23111317
References:
Ontology: Human Disease   (DOID:0080566)
OTHER congenital disorder of glycosylation In PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RFT1 Congenital disorder of glycosylation, type In 612015
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None