NAA15

Clinical Characteristics

Individuals with a NAA15-related disorder will have some degree of developmental delay and later intellectual disability, ranging from mild to severe. The severity of learning difficulties can also vary between individuals with the same NAA15 gene change, even within the same family. It is relatively common for individuals with a NAA15-related condition to have particular delays in their speech and language development. Early intervention, specialist schooling and educational and life skill support are therefore very important to help individuals with NAA15-related disorders meet their full potential. Speech therapy and consideration of alternative communication support is also required.

Although there is substantial overlap in the phenotype between the various research subjects, the range of dysmorphic features, neurological problems, and congenital anomalies is quite broad; moreover, the facial gestalt is currently nonspecific for a recognizable pattern.