Additional Disease Briefs

NORD Summit 2026 Banner Ad

aminoacylase 1 deficiency

Also known as: ACY1 deficiency, ACY1D, N-acyl-L-amino acid amidohydrolase deficiency, aminoacylase 1 deficiency, deficiency of the aminoacylase-1 enzyme, neurological conditions associated with aminoacylase 1 deficiency


aminopterin/methotrexate embryofetopathy

Also known as: aminopterin embryopathy syndrome, aminopterin fetopathy syndrome, aminopterin syndrome, fetal aminopterin syndrome, fetal methotrexate syndrome, foetal aminopterin syndrome, foetal methotrexate syndrome


Amish lethal microcephaly

Also known as: Amish lethal microcephaly, MCPHA, microcephaly, Amish type, thiamine metabolism dysfunction syndrome 3 (microcephaly type)