If any of these participants sound like you or someone you know, please contact us!Contact Us
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 the PHACTR1 gene was identified in a 13-year-old female with unsteady gait (gait ataxia), intellectual disability, absent speech, and seizures (read full description).
Aug 02, 2021
phosphatase and actin regulator 1
PHACTR1 encodes a protein that regulates cell morphology and movement. This protein has an important role in brain development, especially in forming synapses and neuronal migration (Hamada et al., 2018).
A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!