Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
gptkb:TBS
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2008
|
| gptkbp:hasPhenotype |
hypotonia
seizures delayed development broad nasal bridge sparse scalp hair thick vermilion of lips |
| https://www.w3.org/2000/01/rdf-schema#label |
Temple-Baraitser syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
KCNH1 gene
|
| gptkbp:namedAfter |
Karen Temple
Michael Baraitser |
| gptkbp:OMIM |
611816
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
epilepsy
intellectual disability distinctive facial features hypoplasia of nails and distal phalanges of thumbs and great toes |
| gptkbp:treatment |
symptomatic and supportive
|
| gptkbp:bfsParent |
gptkb:KCNH1
|
| gptkbp:bfsLayer |
8
|