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HSD10 disease, atypical type

Orpha number ORPHA85295
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 recessive
Age of onset Childhood
ICD-10
  • G25.5
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome 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.


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