Disease name

아셔 증후군 (제1형)
 Usher syndrome type 1

Marker gene

Gene symbol Chromosome location Protein name
CDH23 10q22.1 Cadherin-23
MYO7A 11q13.5 Myosin-VIIa
PCDH15 10q21.1 Protocadherin-15
USH1C 11p15.1 Harmonin
USH1E - -
SANS 17q25.1 Usher syndrome type-1G protein

Prevalence

1-9 / 100 000

Inheritance

상염색체 열성

Age of onset

신생아기, 영아기

MIM number

276900
276904
601067
602083
602097
606943

Synonym

USH

Summary

Under development.