Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation .
B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O O O O O O O O B-GeneOrGeneProduct O O