Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
craniosynostosis syndrome |
| gptkbp:affects |
gptkb:judge
development skull |
| gptkbp:firstDescribed |
1997
Maximilian Muenke |
| gptkbp:hasOMIMGene |
134934
|
| gptkbp:hasOrphanetID |
ORPHA:98848
|
| https://www.w3.org/2000/01/rdf-schema#label |
Muenke syndrome
|
| gptkbp:ICD-10_code |
Q75.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:4p16.3
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR3_gene
Pro250Arg (P250R) in FGFR3 |
| gptkbp:namedAfter |
Maximilian Muenke
|
| gptkbp:OMIM |
602849
|
| gptkbp:prevalence |
1 in 30,000 live births
|
| gptkbp:symptom |
hearing loss
developmental delay macrocephaly facial asymmetry craniosynostosis broad great toes premature fusion of coronal suture |
| gptkbp:treatment |
surgery
speech therapy hearing aids |
| gptkbp:bfsParent |
gptkb:FGFR3
|
| gptkbp:bfsLayer |
6
|