Molecular characteristics

This disorder is caused by disruption of the neuronal cell adhesion molecule (NRCAM) function, caused by bi-allelic (homozygous or compound heterozygous) variants in the NRCAMgene.

Molecular diagnosis is made by next generation sequencing (exome or genome sequencing) or direct gene sequencing; both missense and loss-of-function variants have been observed in patients. Genotype-phenotype correlations suggest that in most cases, individuals harboring loss-of-function variants tend to have a more severe phenotype than those with missense variants.