Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:firstDescribed |
1984
Lujan and Fryns |
| https://www.w3.org/2000/01/rdf-schema#label |
Lujan-Fryns syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:mutationAssociatedWith |
MED12 gene
|
| gptkbp:OMIM |
309520
|
| gptkbp:otherName |
Lujan syndrome
X-linked mental retardation with marfanoid habitus |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
intellectual disability
tall stature joint hypermobility behavioral problems marfanoid habitus high-arched palate hypernasal speech autism spectrum features long thin face |
| gptkbp:bfsParent |
gptkb:X-linked_intellectual_disability
|
| gptkbp:bfsLayer |
7
|