Orphanet: 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

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.

ORPHA:1568

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

ORPHA:1568

A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014) Deutsch (2004) Polski ()

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