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

• OMIM:617173
• ORDO:542306

Ontology

Human Disease   ( DOID:0081008 )