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skos:definition |
JABL: An association of unusual facies, delayed mental and physical development, microcephaly, cortical atrophy, seizures seizures, hypotonia, and neutrophilia with recurrent infections.,NCI: Leukocyte Adhesion Deficiency, Type II. An inherited disease affecting the metabolism of fucose, which affects the expression of the sialyl Lewis X antigen, the fucose-containing ligand for E- and P-selectins, resulting in a deficiency in neutrophil adhesion. SYN Sialyl-Lewis X defect.
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