Rhizomelic Chondrodysplasia Punctata, Type 3 (AGPS)
Rhizomelic chondrodysplasia punctata, type 3 is a pan-ethnic, autosomal recessive disorder that is caused by pathogenic variants in the AGPS gene. This disease is characterized by congenital cataracts, proximal limb shortening, seizures, growth delay and intellectual disability. Due to respiratory complications, this condition is usually fatal within the first decade of life. It is not currently possible to predict the severity of disease based on the variants inherited.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Rhizomelic Chondrodysplasia Punctata, Type 3||AGPS||4, 9, 12, 14, 18  (*6)||AR||Worldwide||< 1 in 500||80%||0.000400641025641026|