intellectual developmental disorder with short stature and behavioral abnormalities Disease Ontology Browser

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Disease Ontology Browser

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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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