Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:congenital_disorder_of_deglycosylation
genetic disorder |
| gptkbp:alsoKnownAs |
gptkb:NGLY1_deficiency
|
| gptkbp:associatedWith |
gptkb:NGLY1
|
| gptkbp:category |
rare disease
inborn error of metabolism |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2012
|
| https://www.w3.org/2000/01/rdf-schema#label |
NGLY1-CDDG
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:NGLY1_gene
|
| gptkbp:OMIM |
615273
|
| gptkbp:prevalence |
ultra-rare
|
| gptkbp:symptom |
intellectual disability
peripheral neuropathy seizures developmental delay movement disorder elevated liver transaminases hypolacrima |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:NGLY1_deficiency
|
| gptkbp:bfsLayer |
7
|