Disease name

아셔 증후군 (제2형)
 Usher syndrome type 2

Marker gene

Gene symbol Chromosome location Protein name
USH2A 1q41 Usherin
DFNB31 9q32 Whirlin
PDZD7 10q24.31 PDZ domain-containing protein 7
VLGR1b 5q14.1 G-protein coupled receptor 98

Prevalence

1-9 / 100 000

Inheritance

상염색체 열성

Age of onset

신생아기, 영아기

MIM number

276901
605472
611383
612632

Synonym

USH2

Summary

Under development.