FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term syndromic X-linked intellectual disability Chudley-Schwartz type ID (Ontology) DOID:0060819 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.
Also Known As "mental retardation, X-linked, syndromic, Chudley-Schwartz type" ; "MRXSCS" ; "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__syndromic X-linked intellectual disability Chudley-Schwartz type
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a syndromic X-linked intellectual disability
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "mental retardation, X-linked, syndromic, Chudley-Schwartz type" EXACT
    "MRXSCS" EXACT OMO:0003012
    "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:300861