A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene <i>ALG13</i> (Xq23).

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.