OBO ID: DOID:0081008
Term Name: intellectual developmental disorder with cardiac arrhythmia Search Ontology:
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)
OTHER intellectual developmental disorder with cardiac arrhythmia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNB5 Intellectual developmental disorder with cardiac arrhythmia 617173
PHENOTYPE No data available

CITATIONS (2)