intellectual developmental disorder with short stature and behavioral abnormalities

Term ID

DOID:0111674

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. https://www.ncbi.nlm.nih.gov/pubmed/31607425

References

• OMIM:618687

Ontology

Human Disease   ( DOID:0111674 )