Syndromic X-linked intellectual disability 5
Syndromic X-linked intellectual disability 5
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.
Also known as intellectual disability, X-linked syndromic 5, MRX59, MRXS21, Pettigrew syndrome, Pettigrew syndrome, X-linked recessive, syndromic X-linked intellectual disability 21, syndromic X-linked intellectual disability fried type, syndromic X-linked intellectual disability type 5, 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 — per MONDO