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Early-onset parkinsonism-intellectual disability syndrome

Disease definition

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

ORPHA:2379

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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