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Five IHH subjects harbored multigenic deletions spanning the FGFR1 gene, as well as other chr8p11.2 genes that provide additional genotype-phenotype correlations: the ANK1 gene is linked to spherocytosis, the KAT46A with speech impairment and NGR1 and GTF2E2 with hearing loss, observed in a subset of IHH subjects (figure created with biorender.com).
