Term Name: | intellectual developmental disorder with short stature and behavioral abnormalities |
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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 ) |