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Human Disease

intellectual developmental disorder with cardiac arrhythmia

Term ID
DOID:0081008
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. https://pubmed.ncbi.nlm.nih.gov/27523599/
References
Ontology
Human Disease   ( DOID:0081008 )
Relationships
is a type of
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Genes Involved
Zebrafish Models