X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures

From BugSigDB


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.
Aliases
  • Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
  • fried syndrome
  • intellectual disability X-linked syndromic 5
  • intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures
  • intellectual disability, X-linked 59
  • intellectual disability, X-linked syndromic 5
  • intellectual disability, X-linked, syndromic 21
  • intellectual disability, X-linked, syndromic 5
  • intellectual disability, X-linked, syndromic, fried type
  • intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures
  • mental retardation X-linked syndromic 5
  • mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures
  • mental retardation, X-linked 59
  • mental retardation, X-linked syndromic 5
  • mental retardation, X-linked, syndromic 21
  • mental retardation, X-linked, syndromic 5
  • mental retardation, X-linked, syndromic, fried type
  • mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures
  • MRX59
  • MRXS21
  • MRXS5
  • PETTIGREW syndrome
  • Pettigrew syndrome
  • PGS
  • syndromic X-linked intellectual disability 21
  • syndromic X-linked intellectual disability 5
  • syndromic X-linked intellectual disability fried type
  • syndromic X-linked intellectual disability type 5
  • syndromic X-linked mental retardation 21
  • syndromic X-linked mental retardation fried type
  • X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures
  • X-linked intellectual disability 59
  • X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
  • X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
  • X-linked mental retardation 59
  • X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures