chromosome Xp11.22 duplication syndrome

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.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Macrocephaly

Also known as: MRX17; MRX31; X-linked mental retardation 17; X-linked mental retardation 31; Xp11.22 microduplication syndrome