NRCAM-related neurodevelopmental disorder is ultra rare, with only 11 patients from nine families described to date. The disorder is caused by bi-allelic variants in the NRCAMgene, which lead to a multi-systemic and variable phenotype, including global developmental delay of varying severity, dysmorphic features, hypotonia, peripheral neuropathy or spasticity, and visual and hearing disturbances. Some patients present with normal cognition, and may have isolated peripheral neuropathy. In severe cases, neonatal respiratory insufficiency may occur, which could lead to early demise.
NRCAM