Figure 5.

The missense mutations of 17β-HSD10, encoded by the HSD17B10 gene, result in HSD10 deficiency, whereas a silent mutation causes mental disability, X-linked syndromic 10 (MRXS10). Female cases are indicated by a red vertical bar, whereas male cases are in blue. The bar height is approximately proportional to the number of cases. The contents shown in a dotted square were expanded by approximately 6x. The N and C represent the N- and C-terminals of 17β-HSD10, respectively. (Updated from Figure 5 of Ref. [3]).