chromosome Xp11.22 duplication syndrome (DOID:0112037)
Alliance: disease page
Synonyms: MRX17; MRX31; X-linked mental retardation 17; X-linked mental retardation 31; Xp11.22 microduplication syndrome
Alt IDs: OMIM:300705
Definition: A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes.