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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a female, age 20, with musculoskeletal and orthopedic anomalies (read full description).
Nov 16, 2021
kinesin family member 5B
This gene encodes a motor protein that plays an important role in organelle transport in many cell types (Navone et al., 1992).
A change in this gene was identified in a UDN participant. Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms:
Interested in learning more about this gene or sharing what you know? Contact us!