OBO ID: DOID:0080557 |
Term Name: | congenital disorder of glycosylation Ie | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.