has material basis in germline mutation in HSD17B10 inborn mitochondrial metabolism disorder HSD10 mitochondrial disease https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6750 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/hsd10_mitochondrial_disease https://www.malacards.org/card/syndromic_x_linked_intellectual_disability_type_10 HSD10 mitochondrial disease UMLS:C3266731 MEDGEN:781653 17-beta-hydroxysteroid dehydrogenase 10 deficiency A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. HSD10MD syndromic X-linked intellectual disability type 10 chorioathetosis with mental retardation and abnormal behaviour MHBD deficiency mental retardation with chorioathetosis and abnormal behavior 3H2MBD deficiency 17 beta-hydroxysteroid dehydrogenase type 10 deficiency 2-methyl-3-hydroxybutyric aciduria 17-beta-hydroxysteroid dehydrogenase X deficiency HSD10 mitochondrial disease, X-linked dominant mental retardation, X-linked, syndromic 10 HSD10 deficiency HSD10 deficiency, atypical type 3-hydroxyacyl-CoA dehydrogenase 2 deficiency chorioathetosis with mental retardation and abnormal behavior MRXS10 MESH:C536080 SCTID:791000124107 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency mental retardation with chorioathetosis and abnormal behaviour hydroxyacyl-CoA dehydrogenase II deficiency X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome OMIM:300438 2M3HBA 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency MESH:C564560 X-linked intellectual disability-choreoathetosis-abnormal behaviour syndrome HSD17B10 deficiency OMIM:300220 DOID:0060810 Orphanet:391417 MONDO:0010327 GARD:0010716 mental retardation, X-linked, syndromic type 10 X-linked syndromic intellectual disability hereditary neurological disease