Human genes for syndromic X-linked intellectual disability type 10
Syndromic X-linked intellectual disability type 10 [DOID:0060810]
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.
Synonyms: syndromic X-linked intellectual disability type 10, DOID:0060810, syndromic Xlinked intellectual disability type 10, HSD10 deficiency, atypical type, HSD10 disease, atypical type ...