FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term intellectual developmental disorder with cardiac arrhythmia ID (Ontology) DOID:0081008 (Human Disease)
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.
Also Known As "GNB5-related intellectual disability-cardiac arrhythmia syndrome"
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 Genes
 intellectual developmental disorder with cardiac arrhythmia       1
 for disease ribbon | intellectual developmental disorder with cardiac arrhythmia       1
 model of | intellectual developmental disorder with cardiac arrhythmia       1
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 intellectual developmental disorder with cardiac arrhythmia  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "GNB5-related intellectual disability-cardiac arrhythmia syndrome" EXACT
Secondary IDs
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MIM:617173
ORDO:542306