Disease #03570 (BCS-2 (cornea, brittle, syndrome type 2 (BCS-2)), OMIM:614170)

Official abbreviation BCS-2
Name cornea, brittle, syndrome type 2 (BCS-2)
OMIM ID 614170
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PRDM5
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     
00051532 27032025-FamPatIV5 PubMed: Micheal 2016, Journal: Micheal 2016 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents M yes Pakistan - - 0 - - BCS-2 see paper, brittel cornea syndrome, ... - PRDM5, SEC24D 2 4 Shazia Micheal
Legend   How to query