17β-hydroxysteroid dehydrogenase type 10 deficiency

an X-linked dominant condition in which mutation in the HSD17B10 gene (locus: Xp11.2) results in deficiency of the type 10 enzyme, a multifunctional mitochondrial enzyme that is involved in maintaining synaptic function; it is characterized by a number of neurologic abnormalities, including mental retardation, delayed psychomotor development, choreoathetosis, progressive neurodegeneration, and seizures.