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On this page, you will find information about a genetic change that was identified in a UDN participant.
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 NACC1 gene was identified in a male, age 20 months, with seizures, cataracts, a small head size (microcephaly), and global developmental delay (read full description).
Jul 01, 2016
Nucleus accumbens associated 1
The NACC1 gene codes for a protein involved in transcriptional repression (Korutla et al., 2002).
NCBI Gene: 112939
A change in this gene was identified in a UDN participant and other individuals with similar symptoms (Schoch et al, 2017).
Families affected by this condition have formed a Facebook group to connect with one another and share information.
Interested in learning more about this gene or sharing what you know? Contact us!