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"Cataract," "ataxia," short "stature," intellectual disability
- ... hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability.The signs and symptoms vary greatly among individuals ...
- ... CCFDN may have problems with balance and coordination (ataxia), tremors, and difficulty with movements that involve judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically underweight, and have reduced bone density. ...
- ... have muscle weakness (myopathy) and difficulty coordinating movements ... abnormalities including short stature and a spine that curves to the side ( ...