As the only clinical feature: |
- Fetal cystic hygroma, or hydrops, especially when severe
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- Obstructive left-sided congenital heart defect*
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- Unexplained delayed puberty/menarche
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- Characteristic facial features in a female¶
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At least two of the following: |
- Renal anomaly (horseshoe, absence, or hypoplasia)
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- Neuropsychologic problems, and/or psychiatric issues
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- Multiple typical or melanocytic nevi
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- Dysplastic or hyperconvex nails
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- Other congenital heart defectsΔ
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- Hearing impairment <40 years of age together with short stature
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