GNB5-related intellectual disability-cardiac arrhythmia syndrome
Description
A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
Cell Lines
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.