Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
Gripp-Ayme syndrome
|
| gptkbp:category |
neurological disorder
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2000
Ayme and Gripp |
| https://www.w3.org/2000/01/rdf-schema#label |
Ayme-Gripp syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
DDX3X gene
|
| gptkbp:OMIM |
617471
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hypotonia
intellectual disability seizures sensorineural hearing loss facial dysmorphism autistic features delayed development |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:c-Maf
|
| gptkbp:bfsLayer |
8
|