Deafness, Congenital, with Onychodystrophy, Autosomal Dominant (DDOD)

Alias:

Ddod Syndrome

Autosomal Dominant Hearing Loss-Onychodystrophy Syndrome

Autosomal Dominant Deafness - Onychodystrophy Syndrome

Autosomal Dominant Deafness-Onychodystrophy Syndrome

Ddod

Deafness, Congenital, and Onychodystrophy, Autosomal Dominant

Autosomal Dominant Congenital Deafness with Onychodystrophy

Deafness-Onychodystrophy, Dominant

Robinson Miller Bensimon Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant, also known as ddod syndrome, is related to deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome and nail disorder, nonsyndromic congenital, 9. An important gene associated with Deafness, Congenital, with Onychodystrophy, Autosomal Dominant is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2). Affiliated tissues include skin and eye, and related phenotypes are severe sensorineural hearing impairment and absent fingernail

Related ID：

MALACARDS：DFN331

OMIM：124480

MESH：D003638