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HSD10 disease, atypical type

Disease definition

HSD10 disease, atypical type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Manifestations may be variable and may be characterized by intellectual disability, choreoathetosis and/or behavior disorders (aggressiveness, agitation, hallucinations, automutilation), as well as pre- and postnatal growth retardation, microcephaly and/or speech impairment. Severe ketoacidosis and elevated urinary excretion of isoleucine metabolites are reported.

ORPHA:85295

  • 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: 300438
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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