Associated Papers
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
Franek KJ et al.
American Journal of Medical Genetics. Part A, 2011
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A et al.
Human Molecular Genetics, 2008
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