Noonan-like syndrome with loose anagen hair
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
Noonan syndrome with loose anagen hair
|
| gptkbp:firstDescribed |
2009
|
| https://www.w3.org/2000/01/rdf-schema#label |
Noonan-like syndrome with loose anagen hair
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SHOC2_gene
|
| gptkbp:OMIM |
607721
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Noonan_syndrome
|
| gptkbp:symptom |
short stature
developmental delay cardiac anomalies facial dysmorphism loose anagen hair |
| gptkbp:bfsParent |
gptkb:SHOC2
gptkb:SHOC2_gene |
| gptkbp:bfsLayer |
7
|