Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
CRASH syndrome
|
| gptkbp:characterizedBy |
shuffling gait
Aphasia mental retardation adducted thumbs |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
Jouet et al.
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
MASA syndrome
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:L1CAM_gene
|
| gptkbp:namedAfter |
Mental retardation, Aphasia, Shuffling gait, Adducted thumbs
|
| gptkbp:OMIM |
303350
|
| gptkbp:symptom |
hydrocephalus
intellectual disability spasticity |
| gptkbp:bfsParent |
gptkb:L1CAM
|
| gptkbp:bfsLayer |
7
|