FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal recessive intellectual developmental disorder 43 ID (Ontology) DOID:0081207 (Human Disease)
Definition An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays.
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
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
 Full annotation statements 
Relevant FlyBase reports
 Genes
 autosomal recessive intellectual developmental disorder 43       1
 for disease ribbon | autosomal recessive intellectual developmental disorder 43       1
 model of | autosomal recessive intellectual developmental disorder 43       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal recessive disease__
intellectual disability______|
                             autosomal recessive intellectual developmental disorder
                              |__autosomal recessive intellectual developmental disorder 43  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive intellectual developmental disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MIM:615817