intellectual developmental disorder with short stature and behavioral abnormalities (DOID:0111674)
Alliance: disease page
Synonyms: IDDSSBA
Alt IDs: OMIM:618687
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.