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ZIRC
OBO ID: DOID:0080557
Term Name: congenital disorder of glycosylation Ie Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1e
Definition: A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/23856421
References:
Ontology: Human Disease   (DOID:0080557)
OTHER congenital disorder of glycosylation Ie PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DPM1 Congenital disorder of glycosylation, type Ie 608799
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None