Disease #04567 (BBS-17 (Bardet-Biedl syndrome, type 17 (BBS-17)), OMIM:615994)

Official abbreviation BBS-17
Name Bardet-Biedl syndrome, type 17 (BBS-17)
OMIM ID 615994
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene LZTFL1
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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     
00276328 - - - M yes Turkey - 00y36m 0 - - BBS-17 Polydactyly Renal abnormalities Genital abnormalities Facial dysmorphism Cardiac abnormalities LZTFL1 LZTFL1 1 1 Evren Gümüş
Legend   How to query