Disease name

Brachyolmia type 3
 Brachyolmia type 3

Marker gene

Gene symbol Chromosome location Protein name
TRPV4 12q24.11 Transient receptor potential cation channel subfamily V member 4

Inheritance

상염색체 우성

MIM number

113500

Synonym

Autosomal dominant brachyolmia

Summary

Under development.