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Autosomal dominant deafness-onychodystrophy syndrome
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Short thumb
Hypoplasia (congenital reduction in size) of the thumb.
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(表示件数)
PMID (PMCID)