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gnb5-related intellectual disability-cardiac arrhythmia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux.
Mondo Term and Equivalent IDs
MONDO:0014953:  gnb5-related intellectual disability-cardiac arrhythmia syndrome
Orphanet:542306: 
UMLS:C4310682: