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Autosomal dominant deafness - onychodystrophy syndrome

rare

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.

Identifiers
MONDO:0007420 OMIM:124480Orphanet:79499
Causal genes
ATP6V1B2
Part of
Hereditary diseaseIntegumentary system disorderSyndromic disease
Also known as
autosomal dominant deafness-onychodystrophy syndrome · DDOD · DDOD syndrome · deafness and onychodystrophy, dominant form · deafness, congenital, and onychodystrophy, autosomal dominant

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