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

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

Synonyms: Pettigrew Syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.

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