Autoszomális recesszív
A group of recessive conditions (types 1 to 4) causing sensorineural hearing loss, progressive retinitis pigmentosa and, in some types, balance problems, linked to genes such as USH2A, MYO7A, CDH23, PCDH15, USH1C, USH1G, ADGRV1, WHRN, CLRN1 and ARSG.
Mit változtat a diagnózis
An early diagnosis helps with decisions about the timing of cochlear implants, eye monitoring and eligibility for retinal therapy trials, and is relevant to carrier screening.
Más néven
deafness-retinitis pigmentosa syndrome; dystrophia retinae pigmentosa-dysostosis syndrome; Graefe-Usher syndrome; Hallgren syndrome; USH; Usher's syndrome
19 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- retinitis pigmentosa-deafness syndrome
- Usher syndrome type 1
- Usher syndrome type 1B
- Usher syndrome type 1C
- Usher syndrome type 1D
- Usher syndrome type 1E
- Usher syndrome type 1F
- Usher syndrome type 1G
- Usher syndrome type 1H
- Usher syndrome type 1K
- Usher syndrome type 2
- Usher syndrome type 2A
- Usher syndrome type 2C
- Usher syndrome type 2D
- Usher syndrome type 3
- Usher syndrome type 3A
- Usher syndrome type 3B
- Usher syndrome, type 1D/F
- Usher syndrome, type 4
