Zimmermann-Laband syndrome 1
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasGeneticCause |
KCNH1 gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
Zimmermann-Laband syndrome 1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
135500
|
| gptkbp:symptom |
gptkb:hypertrichosis
epilepsy intellectual disability hepatosplenomegaly coarse facial features joint hypermobility nail dysplasia enlarged ears enlarged nose gingival fibromatosis hypoplasia of distal phalanges |
| gptkbp:synonym |
ZLS1
Zimmermann-Laband syndrome type 1 |
| gptkbp:bfsParent |
gptkb:KCNH1
|
| gptkbp:bfsLayer |
8
|