Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
CRASH syndrome
L1CAM syndrome |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1994
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:L1CAM_gene
|
| gptkbp:namedAfter |
gptkb:L1_cell_adhesion_molecule
|
| gptkbp:OMIM |
308840
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:intellectual_disability
hydrocephalus spasticity corpus callosum agenesis adducted thumbs |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:L1CAM
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
L1 syndrome
|