Pitt-Hopkins syndrome
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Mutations in <span class="gene" id="17436254-0-13-17">TCF4</span>, encoding a class I basic helix-loop-helix transcription factor, are responsible for <span class="disease" id="17436254-0-103-124">Pitt-Hopkins syndrome</span>, a severe epileptic encephalopathy associated with autonomic dysfunction.