WormBase Tree Display for DO_term: DOID:0081008
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| DOID:0081008 | Name | intellectual developmental disorder with cardiac arrhythmia | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | GNB5-related intellectual disability-cardiac arrhythmia syndrome | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 617173 | |
| Attribute_of | Gene_by_orthology | WBGene00001680 |
