Families

NRCAM-related neurodevelopmental disorder is ultra rare. Only 11 patients from nine families have been described in the professional literature. The disorder is caused by mutations in both copies of the NRCAMgene. NRCAMmutations affect multiple body systems and lead to variable clinical features, which may highly differ between patients.

The main clinical features include abnormal development, including intellectual disability, speech and motor delays, as well as poor muscle tone, nerve problems (neuropathy) or muscle stiffness (spasticity), visual and hearing impairments. Some patients may have normal cognition, and neuropathy without any additional features. In severe cases, breathing difficulties may occur at birth, which could lead to early demise.