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Syndromic X-linked intellectual disability 5

MONDO:0010574

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.

Also known as: MRX59, MRXS21, Pettigrew syndrome, Pettigrew syndrome, X-linked recessive, 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 intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome

34 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Syndromic disease (24) X-linked disease (16) Human disease (14) Developmental defect during embryogenesis (7) Central nervous system malformation (5)
Trials to join now! 15 Not yet recruiting 6 Not yet finished but already full! 3 Completed 10
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