| Metadata | |
|---|---|
| ID | DOID:0081008 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/27523599/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
GNB5-related intellectual disability-cardiac arrhythmia syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |