Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0112037 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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