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Entry Name Description Category Pathway Gene
H02895 Lodder-Merla syndrome
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Lodder-Merla syndrome is an autosomal recessive multisystem disorder caused by mutations in GNB5, which encodes the G protein beta subunit 5. Recent studies have linked GNB5 mutations to a spectrum of ... Cardiovascular disease; Nervous system disease GNB5 [HSA:10681] [KO:K04539]
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