Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

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Alternate names

Pettigrew syndrome; PGS; X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

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 , and iron deposition.

NIH genetic and rare disease info

Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures is a rare disease.


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Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

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