chromosome Xp11.22 duplication syndrome

Term ID

DOID:0112037

Synonyms

• MRX17
• MRX31
• X-linked mental retardation 17
• X-linked mental retardation 31
• Xp11.22 microduplication syndrome

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. (2)

References

• OMIM:300705

Ontology

Human Disease   ( DOID:0112037 )