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X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Disease definition

A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.


Classification level: Disorder
  • Synonym(s):
    • Pettigrew Syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q04.8
  • ICD-11: LD90
  • OMIM: 304340
  • UMLS: C0796254
  • MeSH: C535773
  • GARD: 8520
  • MedDRA: -
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