According to the first published case, FEM1C-related neurodevelopmental disorder may include:
• Global developmental delay, notably affecting speech (which can be absent or severely impaired)
• Pyramidal signs (increased muscle tone/spasticity, brisk deep tendon reflexes)
• Limb ataxia
• Possible additional symptoms such as intention tremor, dysmetria, and nystagmus
Since these data come from a limited number of reported individuals, the full clinical spectrum remains to be defined.
FEM1C