Usher Syndrome Consortium
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium
Abstract
The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium.
Source and rights
Published by American journal of medical genetics, 1994. The guideline itself is at the source linked here.
Prognia summarises this guideline for reference and education. It is not medical advice. Always check the official guideline and current local protocols before acting on it.
At a glance
- Organisation
- Usher Syndrome Consortium
- Published
- 1994
- Applies to
- 🇺🇸 United States
- Scope
- National
- Journal
- American journal of medical genetics
- PubMed
- 8160750
- Added to Prognia
- 24 July 2026