Term Name: | intellectual developmental disorder with cardiac arrhythmia |
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Synonyms: | GNB5-related intellectual disability-cardiac arrhythmia syndrome |
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. |
Ontology: | Human Disease [DOID:0081008] ( DOID:0081008 ) |