Disease #00671 (NSLH (Noonan-like syndrome with loose anagen hair (NSLH)), OMIM:607721)

Official abbreviation NSLH
Name Noonan-like syndrome with loose anagen hair (NSLH)
OMIM ID 607721
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 4
Associated with 1 gene SHOC2
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00080913 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - NSLH Noonan-like syndrome with loose anagen hair (OMIM:607721) SHOC2 SHOC2 1 1 Daniel Trujillano
00228780 17-1777 - - M no Albania - 01y 0 - - NSLH Noonan syndrome like disorder with loose anagen hair SHOC2 SHOC2 1 1 Paola Daniele
00306134 68 - - F - China - - - - - NSLH - SHOC2 SHOC2 1 1 Sha Hong
Legend   How to query