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Human Disease

syndromic X-linked intellectual disability type 10

Term ID
DOID:0060810
Synonyms
  • HSD10 deficiency, atypical type
  • HSD10 disease, atypical type
  • mental retardation, X-linked syndromic 10
  • MRXS10
  • X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
Definition
A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (2)
References
Ontology
Human Disease   ( DOID:0060810 )
Relationships
is a type of
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Genes Involved
Zebrafish Models