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.