Disease association ontology term - MONDO:0010574 - syndromic X-linked intellectual disability 5

Term summary

ID

MONDO:0010574

Name

syndromic X-linked intellectual disability 5

Ontology or CV name

Disease association

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.

Parents

• is_a congenital nervous system disorder
• is_a multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• is_a central nervous system malformation
• is_a X-linked syndromic intellectual disability

Annotation