PhenomeGene — Human Disease Gene Website SeriesFEM1C

Clinical Characteristics

From the limited information available, children or individuals with a FEM1C gene mutation may:
• Learn new skills later than usual (developmental delay)
• Have little or no speech
• Show signs of muscle stiffness or tightness (pyramidal signs)
• Have uncoordinated movements or problems with balance (ataxia)
• Possible additional issues like shakiness when trying to do precise movements (intention   tremor), trouble judging distance or controlling the range of movements (dysmetria), and rapid, involuntary eye movements (nystagmus).

Because so few people have been identified, it is not yet known exactly which symptoms might appear in each person.