ALG13-CDG

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).

Short chin

Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.


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PMID (PMCID)