Orphanet: Waisman syndrome

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Early-onset parkinsonism-intellectual disability syndrome

Disease definition

A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.


Classification level: Disorder
  • Synonym(s):
    • Laxova-Opitz syndrome
    • Waisman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: G20
  • OMIM: 311510
  • UMLS: C0796195
  • MeSH: -
  • GARD: 3203
  • MedDRA: -
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