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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 the PIP5K1C gene was identified in a female, age 8 with multiple dysmorphic features, global developmental delay, and epileptic encephalopathy (read full description).
Sep 09, 2021
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
This gene encodes a protein that is essential for creating lipids involved in many cellular processes (Ishihara et al., 1998).
A de novo change in this gene was identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!