Disease #00542

Official abbreviation SJS-1
Name syndrome, Schwartz-Jampel, type 1 (SJS-1)
OMIM ID 255800
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HSPG2
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00132074 1 - - M - Brazil - - 0 - - SJS-1 - HSPG2 HSPG2 2 1 Karina Silveira
Legend