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Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. [from SNOMEDCT_US]
Segregation analysis
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