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GENATLAS PHENOTYPE

last update : 04-11-2009

Symbol	BDB1
Location	9q22.31
Name	brachydactyly type B
Corresponding gene	ROR2
Main clinical features	characterized by rudimentary or absent distal and middle phalanges and nail aplasia associated or not to cutaneous syndactyly of varying degrees
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	orphan receptor tyrosine kinase ROR2, mutations scattered throughout the entire coding region

Remark(s)