Disease #03711 (BVVLS-2 (Brown-Vialetto-Van Laere syndrome, type 2 (BVVLS-2)), OMIM:614707)

Official abbreviation BVVLS-2
Name Brown-Vialetto-Van Laere syndrome, type 2 (BVVLS-2)
OMIM ID 614707
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene SLC52A2
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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     
00051498 - ATX551 - F yes Turkey - - 0 - - BVVLS-2 - - SLC52A2 1 1 Claire Guissart
00051499 - ATX551 - F yes Turkey - - 0 - - BVVLS-2 - - SLC52A2 1 1 Claire Guissart
00051501 - - - M yes Israel - - 0 - - BVVLS-2 - - SLC52A2 1 1 Claire Guissart
00051502 - - - F yes Israel - - 0 - - BVVLS-2 - - SLC52A2 1 1 Claire Guissart
Legend   How to query