Term Name: intellectual developmental disorder with cardiac arrhythmia
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 )

Relationships
is a type of: autosomal recessive disease syndrome