associated with hemizygous or heterozygous mutations in the HSD17B10 gene; OMIM: 300438
Also Known As:
Mental Retardation, X-Linked, Syndromic 10; 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency; 17beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency; 2-Methyl-3-Hydroxybutyric Aciduria; 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency; 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency; 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency; 3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency; Chorioathetosis With Mental Retardation And Abnormal Behavior; HSD17B10 Deficiency; Hydroxyacyl-CoA Dehydrogenase II Deficiency; Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency; MRXS10; Mental Retardation With Chorioathetosis And Abnormal Behavior