congenital disorder of glycosylation type Iy
GPTKB entity
Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:congenital_disorder_of_glycosylation
|
| gptkbp:affects |
glycosylation pathway
|
| gptkbp:causedBy |
ALG11 gene mutation
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
613661
|
| gptkbp:symptom |
hypotonia
seizures failure to thrive developmental delay |
| gptkbp:synonym |
ALG11-CDG
|
| gptkbp:bfsParent |
gptkb:SSR4
gptkb:SSR4_gene |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital disorder of glycosylation type Iy
|