syndromic X-linked intellectual disability type 10 (DOID:0060810)
Alliance: disease page
Synonyms: HSD10 deficiency, atypical type; HSD10 disease, atypical type; mental retardation, X-linked syndromic 10; MRXS10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
Alt IDs: OMIM:300438, ICD10CM:G25.5, ORDO:85295
Definition: A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.