| Term Name: | Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia |
|---|---|
| Synonyms: | GNB5-related intellectual disability-cardiac arrhythmia syndrome, intellectual developmental disorder with cardiac arrhythmia |
| 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 ) |