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Syndromic X-linked intellectual disability 5
rareX-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.
- Identifiers
- MONDO:0010574 OMIM:304340Orphanet:1568Orphanet:85329
- Causal genes
- AP1S2
- Part of
- X-linked syndromic intellectual disabilityCentral nervous system malformationCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures · intellectual disability X-linked syndromic 5 · intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures · intellectual disability, X-linked syndromic 5 · mental retardation X-linked syndromic 5
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