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intellectual developmental disorder with cardiac arrhythmia (DOID:0081008)
Alliance: disease page
Synonyms: 'GNB5-related intellectual disability-cardiac arrhythmia syndrome'
Alt IDs: OMIM:617173, ORDO:542306
Definition: A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21.


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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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory