Asparagine Synthetase Deficiency

Asparagine Synthetase Deficiency [ASNS]: Enzyme that catalyzes the transfer of ammonia from glutamine to aspartic acid to form asparagine. Phenotyope characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 80