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Chromosome Xp11.22 Duplication Syndrome

Disease ID: disease_node_16337

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DbxrefMIM:300705
SubclassofDOID_0050776
Data SourceDOID
SynonymsMRX17, MRX31, X-linked mental retardation 17, X-linked mental retardation 31, Xp11.22 microduplication syndrome
Doid Labelchromosome Xp11.22 duplication syndrome
Doid DescriptionA 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.
Disease Node Iddisease_node_16337
Doid IdDOID_0112037
LabelChromosome Xp11.22 Duplication Syndrome