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Developmentally, people with tetrasomy X frequently show mild delays in the areas of speech development and articulation, language expression and understanding, and reading skills.

Delays in motor development are also present, with walking ages ranging from 16 months to 4.5 years.

Approximately 60 affected females have been described in the medical literature.

Physically, tetrasomy X patients tend to have distinctive facial features such as epicanthal folds, flat nasal bridges, upslanting palpebral fissures, midface hypoplasia, small mouths, cleft or high arched palates, delayed or absent teeth, or enamel defects.

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Skeletal problems may also be present, including abnormal curvatures of the spine.

An informal study conducted found that 10% of girls had joint laxity in the hips and 20% had joint limitations in a sample size of 20 tetrasomy and pentasomy patients.

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