" /> Deafness, congenital, with onychodystrophy, autosomal dominant - CISMeF





Preferred Label : Deafness, congenital, with onychodystrophy, autosomal dominant;

Symbol : DDOD;

CISMeF acronym : DDOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ddod syndrome;

Description : The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962). See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, V1 subunit B, isoform 2 gene (ATP6B1B2, 606939.0001);

Prefixed ID : #124480;

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03/05/2025


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