Pitt-Hopkins-Like Syndrome 2 (PTHSL2)

Pitt-Hopkins-Like Syndrome 2, also known as pthsl2, is related to pitt-hopkins syndrome and pitt-hopkins-like syndrome 1, and has symptoms including constipation and breath-holding spell. An important gene associated with Pitt-Hopkins-Like Syndrome 2 is NRXN1 (Neurexin 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Affiliated tissues include tongue, and related phenotypes are epileptic encephalopathy and broad-based gait