| syndroom van autosomaal dominante doofheid met onychodystrofie (aandoening) |
| syndroom van autosomaal dominante doofheid met onychodystrofie |
| syndroom van autosomaal dominante doofheid met nageldystrofie
DDOD-syndroom
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| Autosomal dominant deafness with onychodystrophy syndrome |
| Autosomal dominant hearing loss, onychodystrophy syndrome
DDOD (dominant deafness onychodystrophy) syndrome
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| A rare multiple congenital anomalies syndrome with characteristics of congenital hearing impairment, small or absent nails on the hands and feet and small or absent terminal phalanges. Caused, in some cases by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation. Inheritance is autosomal dominant. |
