ASPH

aspartate beta-hydroxylase
OMIM: 600582
PanelMode of inheritanceDetails
2 panels
R-numbers: R36
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Traboulsi syndrome, OMIM:601552
R-numbers: R125
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Traboulsi syndrome, OMIM:601552, facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, MONDO:0011106