PRDM5

PanelMode of inheritanceDetails
2 panels
R-numbers: R262
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brittle cornea syndrome 614170
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brittle cornea syndrome 2, 614170, BCS, EDSVIB, Connective Tissue Disorders, Ehlers-Danlos syndrome type VIB, Brittle cornea syndrome