Clinical features
Mutations in ASPH cause a clinically recognizable autosomal-recessive disorder, Traboulsi syndrome, which is characterized by facial dysmorphism (involving flat cheeks and a beaked nose), lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs.
Prevalence
The prevalence of ASPH-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
ASPH-related disorder is inherited in an autosomal recessive manner.