Frank-ter Haar Syndrome

About the Disease
Frank-Ter Haar Syndrome, also known as ter haar syndrome, is related to melnick-needles syndrome and megalocornea. An important gene associated with Frank-Ter Haar Syndrome is SH3PXD2B (SH3 And PX Domains 2B), and among its related pathways/superpathways are Signal Transduction and Signaling by Rho GTPases. Affiliated tissues include bone, heart and eye, and related phenotypes are coarse facial features and depressed nasal bridge

Common Targets
SH3PXD2B

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