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HSD10 disease, atypical type

Disease definition

HSD10 disease, atypical type is characterised by mild intellectual deficit associated with choreoathetosis and abnormal behaviour. It has been described in five patients from a four-generation Luxembourg family. Behavioural abnormalities involved aggressiveness, agitation and/or hallucinations and self-mutilation. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the HADH2 gene, encoding L-3-hydroxyacyl-CoA dehydrogenase II.


  • Synonym(s):
    • HSD10 deficiency, atypical type
    • Syndromic X-linked intellectual disability type 10
    • X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: G25.5
  • OMIM: 300220
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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