SLC35A2 and congenital disorder of glycosylation type I: Case 86: A heterozygous missense variant in gene SLC35A2 (NM_005660.1: c.991 G > A (p.Val331Ile)), associated with X-linked dominant Congenital disorder of glycosylation type I, showing allelic imbalance favoring the reference allele (45/69 reads, 76%).