N-Acetylaspartate Deficiency (NACED)

N-Acetylaspartate Deficiency, also known as hypoacetylaspartia, is related to estrogen-receptor positive breast cancer and microcephaly, and has symptoms including ataxia, truncal An important gene associated with N-Acetylaspartate Deficiency is NAT8L (N-Acetyltransferase 8 Like). Affiliated tissues include brain and breast, and related phenotypes are seizure and global developmental delay