Term Name: | chromosome Xp11.22 duplication syndrome |
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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. |
Ontology: | Human Disease [DOID:0112037] ( DOID:0112037 ) |