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

Disease definition

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a 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 (see this term), and iron deposition.

ORPHA:1568

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q23.8
  • OMIM: 304340
  • UMLS: C0796254
  • MeSH: -
  • GARD: 8520
  • MedDRA: -
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