Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
children
|
| gptkbp:firstDescribed |
1971
|
| gptkbp:frequency |
extremely rare
|
| gptkbp:hasOrphanetID |
358
|
| https://www.w3.org/2000/01/rdf-schema#label |
Marshall-Smith syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:mutationAssociatedWith |
NFIX gene
|
| gptkbp:namedAfter |
gptkb:D._W._Smith
W. R. Marshall |
| gptkbp:OMIM |
602535
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
intellectual disability
failure to thrive distinctive facial features respiratory difficulties accelerated skeletal maturation |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Weaver_syndrome
|
| gptkbp:bfsLayer |
7
|