| Term Name: | intellectual developmental disorder with short stature and behavioral abnormalities | 
|---|---|
| Synonyms: | IDDSSBA | 
| Definition: | A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. | 
| Ontology: | Human Disease [DOID:0111674] ( DOID:0111674 ) |