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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.
Changes in the MAMDC4 gene were identified in a UDN participant with behavioral disorders, congenital heart defects, and a brain malformation.
Jun 05, 2023
Mam Domain-Containg Protein 4
The MAMDC4 gene encodes a component of the apical endosomal compartment that is believed to be involved in sorting and selective transport of receptors and ligands (Speelman et al., 1995).
Compound heterozygous changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!