Condition: Profound global developmental delay


rs1554389088 in CAMK2B gene and Profound global developmental delay PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1057521721 in GRIA3 gene and Profound global developmental delay PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.