Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder |
| gptkbp:affects |
central nervous system
|
| gptkbp:associatedWith |
gptkb:L1CAM
|
| gptkbp:causedBy |
mutation in L1CAM gene
|
| gptkbp:characterizedBy |
hydrocephalus
intellectual disability adducted thumbs |
| gptkbp:complication |
spasticity
seizures corpus callosum agenesis |
| gptkbp:firstDescribed |
Bickers and Adams
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked hydrocephalus
|
| gptkbp:ICD-10_code |
Q03.8
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:OMIM |
307000
|
| gptkbp:onset |
congenital
|
| gptkbp:synonym |
gptkb:HSAS
Hydrocephalus with stenosis of the aqueduct of Sylvius |
| gptkbp:treatment |
ventriculoperitoneal shunt
|
| gptkbp:bfsParent |
gptkb:L1CAM
gptkb:X-linked_intellectual_disability |
| gptkbp:bfsLayer |
7
|